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D R .

M AH M O U D H I JA Z Y

PrinciplesofPediatricDermatology
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SKIN MANIFESTATIONS OF METABOLIC DISEASES
This chapter summarizes the different cutaneous manifestations of certain systemic
diseases.
The skin is a clear mirror of the human body where internal diseases may be reflected on
the skin surfaces.
There are different internal diseases that can cause skin manifestations . These signs may
appear on the skin surface with different clinical features depending mainly on the primary
internal disease:
Skin color
Different skin colors are associated with certain skin diseases.
Pallor : as in anemia .
Earthy yellowish discoloration of the skin: occurs in chronic intestinal infestations such as in
bilharziasis.
Plethoric: due to hyperkinetic circulation as in erythroderma and congestive heart failure.
Dryness of the skin occurs in chronic debilitating diseases .
Thinning of the skin: is due to exhaustion of dermal collagen such as in cachexia or locally
due to topical potent steroids.
Stria of the skin: occur in Cushings disease, after topical and systemic steroids for a long
period, dupuytrens contracture and in chronic liver diseases.
Shape: changes in the form and shape of the skin such as moon face due systemic steroids
and lymphangitis and gynecomastia that is related to increased circulating estrogens.
Hair changes: fine , lanugo hair covering the skin may become pigmented as in some
tumors mainly carcinomas .
Hirsutism: this is caused by increased circulating androgens and cortisol due to Cushings
disease or systemic steroid treatment and certain ovarian tumors .
Alopecia: may develop due to increased circulating androgens or changes in the sensitivity
of androgen and estrogens receptors in the skin.

Changes in the color of hair: metabolic and deficiency diseases such as Kwashiorkor and
porphyries may cause change in the color of hair.
Falling of hair: in anemia, hormonal disorders, after chemotherapy or psychic trauma .
Nail changes: this occurs in chronic diseases such as pernicious anemia, liver cirrhosis
leading to white bands and clubbing of nails.
Xanthomatosis, acne and seborrheic like dermatitis occurs in hepatobiliary diseases.
Pruritus is a common manifestation of liver diseases that is believed to be related to bile
salt stasis and increase in its concentration in the blood. Cholestyramine increases fecal loss
of bile salts and thus relieves itching.
Edema of skin may be due to hypoalbuminaemia, increased venous pressure and increases
capillary permeability.
Erythroderma: erythema and exfoliation of skin may result from drug eruption and
Papulosquamus diseases such as psoriasis.
Urticarial lesions and alopecia areata: is related to deep psychic trauma.

SKIN MANIFESTATIONS OF LIVER DISEASES


The pathological changes in the skin and its appendages in liver disease are:
1.

Jaundice in chronic liver diseases .

2.

Diffuse hyperpigmentation of the skin due to hepato-cellular damage.

3.

Spider naevi, telengectasia, palmer flush, livedo reticularis and vasculitis are
common manifestations in children.

4.

Purpuric rashes are due to vitamin K deficiency.

5.

Hair :is fine in liver diseases.

6.

Seborrhea and acniform eruption on the upper part of the body is common
manifestations.

7.

Decreased testicular androgens due to hepatic dysfunction leads to fine hair in


adults and gynecomastia.

8.

Biers spots: white areas appear on the lower extremities when cooled .

9.

Nails: changes in nails with absent lanula and nail clubbing in liver cirrhosis.

SKIN MANIFESTATIONS OF RENAL DISEASES


Pruritus: is a common manifestation of renal failure . The exact mechanism is not clear and
may be related to secondary hyperparathyroidism that leads to mast cells proliferation.
Dryness of the skin: dryness of skin in renal disease may be related to different factors
mainly:
Excretion of nitrogen containing compounds on to the skin surface. Decreased sebaceous
gland activity leads to more dryness and also increases the viscous cycle of itching .
Impaired androgen metabolism: increases dryness of the skin. This also causes fine scalp
hair, with falling of axillary and pubic hair after puberty.
Skin color changes: This is due to increase of melanocyte stimulating hormone occurring
in chronic renal failure since the kidney is the major site of metabolism of this hormone .
The skin color in renal failure varies from pallor due to anemia and hyperpigmentation due
to increased melanocyte activity .

SKIN MANIFESTATIONS OF ENDOCRINE DYSFUNCTIONS


PITUITARY DISEASES
Different skin manifestations are related to pituitary dysfunction :
Acromegaly : The skin is thick due to increased collagen related to increase in circulating
growth hormone leading to coarse features and tendency of keloids formation, skin tags and
folds on the scalp (cutis verticis gyrata ).
The skin in acromegalic patient is greasy and pigmented and covered by thick coarse dark
hair.
Hypopituitrism: The skin is dry, thin, atrophic leading to wrinkles, which are apparent
mainly on the face with hypopigmented, faint yellowish brown patches.

CUSHINGS DISEASE
The different skin manifestations are:
1.

Hyperpigmentation :which is due to increase in the melanocyte-stimulating hormone


(MSH).

2.

Acne: due to excessive androgen secretion forming keratotic plugs occluding the pilo
sebaceous gland orifices is a common manifestation of Cushings syndrome. The
lesions are in the form of superficial papules and pustules with minimal black heads.
This type covers different areas of the skin surface and unlike acne vulgaris, which
affects seborrheic areas of the face, back, and upper chest.

3.

Hirsutism : This is due to increased circulating androgen that is related to increased


androgen production .

Fig .350 Cushing's disease

Fig 351. Cushing's disease

1.

Striae: this is due to the increased circulating glucocorticosteroids. Skin lesions are
pinkish in color arranged usually in linear shapes .Old striae due to Cushings disease
retains its blue- pink color in contrast to the other types of striae which become faint
whitish streaks later on.

2.

Purpura : is a common manifestation . Atrophy of dermal collagen leads to less


support of the dermal vessels , which become liable to rupture .
The presence of purpura in children and young ages should raise the
possibility of Cushings syndrome .

3.

Moon face : this may be due to hydration of subcutaneous fat .

4.

Superficial fungal infections : Tinea versicolor is also one of the manifestations seen
in Cushings syndrome.

SKIN MANIFESTATIONS OF THYROID DYSFUNCTION


Skin manifestations of Hyperthyroidism
Pretibial myxedema: is the most characteristic features of thyrotoxicosis appearing as shiny
waxy papules and plaques having orange-skin appearance on the chin of the tibia.
Increased hair of the areas involved.
Eczema : the lesions simulate atopic dermatitis in children and adults.
Skin thickness: is increased leading to coarse folds which is apparent more around the eyes.
The skin in myxedema appears as a coarse, dry, scaly, puffy and pale with coarse hair
possibly due to increased circulating TSH.
Warm skin and increased sweating due to increased basal metabolic rate.

Pruritus .
Hyperpigmentation or vitilligo .
Premature hair graying .
Alopecia and hair loss on the eye browse .
The nails :become brittled and disfigured .

SKIN MANIFESTATIONS OF PARATHYROID DYSFUNCTION


Hyper parathyroidism: may cause pruritus, cutaneous calcification, hemorrhage and
infarction.
Hypoparathyroidism: cutaneous lesions may simulate that of muco-cutanous candidiasis.

SKIN MANIFESTATIONS DUE TO ADRENAL DYSFUNCTION


Addisons disease:
Skin manifestations of Addisons disease are due to increased melanin and androgen .These
may cause different skin manifestations mainly:
1.

Diffuse hyperpigmentation : of the buccal mucosa and skin usually on the sun
exposed areas of the face, neck and extremities , due to increased production of
melanin. Skin creases of the palms ,sites of friction , old scars and previous
pigmented areas become darker.

2.

Virilism : due to increased circulating androgens leading to hirsutism , male pattern


baldness.

3.

Increased thickening of the skin : this is due to increased dermal collagen.


Acniform eruption and increased seborrhea of the skin and scalp due to increased
androgens .

SKIN MANIFESTATIONS DUE TO PANCREATIC DISEASES


1.

Necrobiosis lipoideca diabeticorum:


Skin lesions are granulomatous, firm, sharply demarcated, oval plaques of different
sizes with shiny atrophic surface and characteristically yellow center. The lesions
appear on the skin of diabetics mainly on the shins of the tibia due to collagen
degeneration . The course is very chronic and healing is with scarring.

2.

Bacterial and fungal skin infections mainly candidiasis.

SKIN MANIFESTATIONS OF DIABETES


Skin manifestations of diabetes include the following:
1.

Necrobiosis lipodeca diabeticorum.

Fig.352 Necrobiosis
lipodeca diabeticorum

1.

Granuloma annulare: The lesions are pale or flesh colored papules forming rings
which blanche with pressure, showing characteristic beaded ring of dermal white
papules mainly on the back of the fingers and hands . Granuloma annulare can be
caused also by tick bites and drug eruption .

2.

Vitilligo : there is an increased incidence of depigmentation of the skin in diabetics,


which is lasting for a long period.

3.

Diabetic dermopathy : The skin lesion is in the form of dull red , oval papules and
may show small blisters, which ulcerate leaving small erosions healing with atrophic,
pigmented patches.

5. Diabetic skin gangrene

Fig.353 Diabetic skin gangrene

Anhidrosis: is patchy due to diabetic neuropathy leading to heat intolerance.


Manifestations due to diabetes therapy
Lipodystrophy: at the sites of insulin injections .
Urticarial reactions due to insulin .

Drug reactions: this is due to the oral medications as sulphonylureas leading to erythema
multiforme and phototoxic reactions.

Fig. 353b. Drug reaction due to diabetic therapy(Sulphonylurea)

Fig. 353b. Drug reaction due to diabetic therapy(Sulphonylurea)

Xanthomatosis: The lesions appear in later stages of diabetics due to increased serum
lipids .
Trophic ulcers and bullous lesions : due to diabetic neuropathy mainly on the feet .

SKIN MANIFESTATIONS OF INTESTINAL


MALABSORPTION SYNDROME
The clinical features are due to malabsorption of the essential fatty acids. These
manifestations are more common in adults than in children.
1.

Skin manifestations:
Dry scaly skin .
Dermatitis herpetiformis .

Fine hair .
Skin pigmentation of the mucous membrane of the buccal cavity and skin creases
are increased in some cases of intestinal malabsorption.
2.

Other rare manifestations:


Bowel lymphoma and skin blistering due to epidermal necrosis in patients with
carcinoma of the pancreas.
In children, the same manifestations may appear in those fed on linoleic acid
deficient diet . The common skin manifestations are:
Psoriasiform rash.
Dryness , cracking and fissuring of the skin.
These cases improve with topical application of sunflower seed oil.

3.

Acrodermatitis enteropathica.
This is a genetic disorder that may be due to zinc deficiency as in malabsorption
syndrome. The condition may be fatal in infants and young children.
Clinical Features.
Skin lesions.
Candidiasis like lesions appear on peri-oral, around the genitalia, scalp, elbows and
fingers. The skin eruption is small blisters, pustules, erosions, crusting and scaling
lesions.
Hair and nail loss
General manifestations
Acrodermatitis enteropathica may be accompanied by severe diarrhea leading to
cachexia.
Diagnosis depends on the clinical picture and the decrease in the circulating zinc.

4.

Vasculitis
Intestinal malabsorption may be associated with skin and bowel vasculitis.

5.

Dermatitis herpetiformis
Dermatitis herpetiformis is an immunologic problem due to deposition of IgA at the
dermo epidermal junction .The condition affects all age groups but mainly in middle
aged females.

The skin lesion begins as a small severely pruritic papules on an erythematous base
on the extensor surfaces of the limbs and trunk. Dermatitis herpetiformis is usually
accompanied by coeliac disease.
Eczema, scabies, erythema multiformis simulate dermatitis herpetiformis and some
times it is not easy to differentiate skin lesions.
The condition responds well to Dapsone and Sulphapyridine.

REFERENCES
1.

Callen JP, Jorrizo JL, eds. Dermatological Signs of Internal Disease. Philadelphia:
Saunders, 1988.

2.

Jones JH, Mason DK, eds. Oral Manifestations of Systemic Disease. Philadelphia:
Saunders, 1980.

3.

Braverman IM. Skin Signs of Systemic Disease 2nd edn. Philadelphia: Saunders,
1981.

4.

Lang PG. Pituitary disorders. In: Callen JP, ed. Cutaneous Aspects of Internal
Disease. London: Year Book Medical Publishers, 1981: chapter 39, 463-71.

5.

Barth JH, Ng LL, Wojanarowska F et al. Acanthosis nigricans, insulin resistance and
cutaneous virilism. Br J Dermatol 1988; 118: 613-19.

6.

Callen JP. Skin signs of internal malignancy. Austral J Dermatol 1987; 28: 106-14.

7.

Kurwa A, Waddington E. Hepato-cutaneous syndrome (juvenile cirrhosis, allergic


capillaritis of the skin, proctocolitis and arthritis). Br J Dermatol 1968; 80: 839-40.

8.

McElgunn PS. Dermatologic manifestations of hepatitis B virus infection. J Am Acad


Dermatol 1983; 8: 539-48.

9.

Isaacs NJ, Ertel NH. Urticaria and pruritus: uncommon manifestations of


hyperthyroidism. J Allergy Clin Immunol 1971;48: 73-81.

10.

Brown J, Winkelmann RK, Randall RV. Acanthosis nigricans and pituitary tumours.
Report of eight cases. J Am Med Assoc 1966; 198: 619-23.

11.

Editorial. Pituitary-dependent Cushings disease. Br Med J 1977; i: 1049-50.

PORPHYRIN DISORDERS
Porphyrins are metabolic by-products, that have not followed the usual synthesis from
glycine and succinyl co-enzyme A to heme with production of Porphobilinogen and

aminolevulinic acid. Different factors such as drugs , chemicals and hormones can increase
porphyrin synthesis.
The site of disturbance is either in the liver (hepatic porphyria) or in the bone marrow in the
erythroid cells (erythropietic porphyria ).
Types of porphyria
A

Hepatic porphyria, this includes:


Porphyria cutanea tarda
Acute intermittent porphyria
Porphyria variegata

Porphyria due to bone marrow disturbance :


Erythropoietic protoporphyria
Congenital erythropoietic porphyria (Gunthers disease )

PORPHYRIA CUTANEA TARDA


The clinical manifestations are due to abnormal Porphyrins metabolism. Drugs such as
barbiturates, sulfonamides, chloramphenicol, chloroquine, griseofulvin and toxins, fungicides
(hexachlorobenzene), may cause this type.
Different types of porphyria can cause different skin , hair and nail manifestations:
Clinical Manifestations
Skin manifestations
The skin is fragile, tear easily and forming blisters due to dermo epidermal separation.
Poikeloderma like reaction in the form of pigmentation , atrophy and telengectasia on sun
exposed areas.
Hypopigmentation and scarring after healing.
Hypertrichosis is not a common manifestation of porphyria cutanea tarda.
Photosensitivity
The patients are sensitive to sunlight even when they are indoors. Patients are labile to have
phototoxic reactions.

Associated diseases
Liver cirrhosis, hemochromatosis, carcinomas and Hodgkins disease may be associated with
porphyria cutanea tarda.
Diagnosis
Urine shows a pinkish coral red fluorescence under Woods light .
Positive bromosulphalin test.
Detection of Porphyrins in urine and feces .
Three-step procedure (devised by Castro): Disposable plastic column charged with anion
exchange resin, permits detection of various porphyrins as well as their precursors.
Hereditary Porphyria Cutanea Tarda
This is a rare type, which is carried as a dominant gene and appears at early age around 15
years of age.
Treatment
Phlebotomy: 500ml of blood every two weeks. Usually 3000-5000 ml of blood is taken .
Involution of skin lesions usually appear after the second blood intake .
Chloroquine: 500mg twice weekly for the adult age are believed to have an encouraging
results.
Sodium bicarbonate: used to alkalinize urine may have a beneficial effect.

ACUTE INTERMITTENT PORPHYRIA


(Porphyria hepatica)
This type is characterized by periodic attacks of abdominal colic, gastrointestinal
disturbances, paralysis and psychiatric disturbances.
Clinical Manifestations:
General manifestations:
Abdominal colic.
Peripheral neuropathy.
Psychiatric abnormality.

Skin manifestations:
Skin pigmentation.
Hirsutism.
Photosensitivity is not a feature of this type .

PORPHYRIA VARIAGATE
Skin manifestations include those of porphyria cutanea tarda and acute intermittent
porphyria but occurring in earlier age groups.

ERYTHROPOIETIC PORPHYRIA
Photosensitivity causes polymorphous light eruption leading to pruritic, erythematous
papulo vesicular and urticarial rashes mainly on the sun-exposed areas. Skin lesions heal
leaving linear pitted scars .Other manifestations are purpura , oedema and severe burning
pain.

ERYTHROPOIETIC PROTOPORPHYRIA
This type appears early in childhood from 2-5 years of age and inherited as a dominant
trait. Photosensitization is a characteristic feature of erythropoietic protoporphyria . In this
type it is believed to be due to the longer wavelengths of ultraviolet (UVL) which ranges
from 320-450nm. Ordinary window glass offers no protection from the effect of sun on such
patients.
Clinical Manifestations
Skin lesions are pruritic erythematous, plaque-like edema, wheals and even vesicles or
bullae on the sun exposed areas. The skin lesions may heal with scarring with waxy
thickening of the nose, cheeks, over the proximal finger joints, circumoral atrophy and
scarring.
Diagnosis
Characteristic cutaneous lesions.
Photosensitivity.
Increased proto-and coproporphyrins in feces.

Increased porphyrins in red blood cells .


Fluorescent microscopic examination of blood : Few drops of blood are diluted 1:5 with
normal saline are placed on a microscopic slide and examined by the oil immersion objective
of a fluorescent microscope.
Erythrocytes usually show characteristic fluorescence.
It should be noted that in this type of porphyria , urine usually does not give fluorescence
under the Woods light .

CONGENITAL ERYTHROPOIETIC PORPHYRIA


This type is a hereditary disease, transmitted by an autosomal recessive gene.
Clinical Manifestations
Skin manifestations
Skin manifestations appear early in infancy on the sun-exposed areas that are due to
photosensitivity. Painful bullous lesions, which heal by destructive and disfiguring scarring
and causing destruction of the cartilage of the nose, ears, and nails.
Cicatricial alopecia
Hypertrichosis: with hair on the cheeks, profuse eyebrows, and long eyelashes (monkey
face).
Urine shows high amount of copro and uropophyrines.
Diagnosis
Congenital erythropietic porphyria has the following characteristics that are diagnostic even
in early infancy:
Red urine in early infancy .
Photosensitivity
Hemolytic anemia
Splenomegaly
Erythrodontia of both deciduous and permanent teeth.
Coral red fluorescence of the teeth when exposed to Woods light.


PHENYLKETONURIA
This disease affects children with blond hair, blue eyes and fair skin due to lack of the
enzyme phenylalanine hydroxylase, which is essential for degradation of phenylalanine to
tyrosine.
Clinical Features:
Photosensitivity.
Eczema like reaction.
Secondary infections are common.
Scleroderma-like skin lesions.
Induration of thighs and buttocks are common manifestations in affected infants and
children.
General manifestations.
Mental deficiency.
Epileptic seizers.
Laboratory findings.
Presence of phenyl pyruvic acid in urine. This can be easily detected by adding to urine few
drops of ferric chloride solution that will give deep green color.
Treatment
Special diet for infants and young children containing low phenylalanine and this should be
given immediately after birth.

ALKAPTONURIA AND OCHRONOSIS


This is a hereditary disease transmitted as an autosomal recessive gene, due to enzymatic
defect in the metabolism of tyrosine and phenylalanin.
Clinical Manifestations.
Dark urine, which becomes later black due to increased homogentisic acid secretion in urine.
Deposition of brown-black pigment in the connective tissue.

In older age groups the manifestations are:


Pigmentation of the sclera, which is an early sign.
Deposition of pigment in the cartilage of the ears, nose and tendons of the extremities
which may show blue, mottled brown macules.
Internal organs mainly great vessels, valves and larynx, genitalia may be also involved .
Arthropathy affecting the spinal joints , hips ,knees and shoulders.

ABNORMAL LIPID METABOLISM


XANTHOMATOSIS
Xanthomatosis is accumulation of lipids in association of foam cells in the tissues.
Different clinical types.
Xanthelasma palpebrarum: this is the most common type of xanthomas affecting any
age. Middle age women are the commonest to have this problem especially those who have
biliary diseases. The lesions are yellowish plaques on the eyelids, which may coalesce to
form large plaques.
Plane xanthomas: yellowish, raised papules, symmetrically distributed mainly on the
eyelids sides of the neck and palms.
Eruptive xanthomas: yellow papules appear on the extensor surfaces of the limbs, joints
and buttocks surrounded by a rim of erythema and may be tender. Eruptive xanthoma is
associated by increased serum triglycerides .

Fig.354. Xanthomatoses

Fig.355. Xanthomatoses

Fig.355d. Xanthomatosis

Xanthomatosis

Fig.355e.

Tendinous xanthomas: nodular yellowish lesions appear on the tendons on the extensor
surface due to cholesterol infiltration.
Tuberous xanthomas: symmetrical nodular lesions, appear over the extensor surface of
the joints and accompanied by increased serum triglycerides and cholesterol.

MANIFESTATIONS OF HYPERLIPOPROTEINEMIA
1

Primary Hyperlipoproteinemia
Familial hyperlipoproteinemioa
Different types:
Type I hyperlipoproteinemia
Type II hyperlipoproteinemia
Type III hyperlipoproteinemia

Type IV hyperlipoproteinemia
Type V hyperlipoproteinemia
2

Secondary Hyperlipoproteinemia
Secondary to systemic diseases
Xanthomatous biliary cirrhosis
Hematopoeitic diseases
Xanthoma diabeticorum
Lipoid nephrosis
Myxedema
Pancreatitis

Generalized xanthelasma
Histiocyhtosis X
Litterer -Siwe disease
Hand -Schuller-Christian disease.
Eosinophilic granuloma.
Juvenile xanthogranuloma.
Refsums Syndrome
This syndrome is a genetic disorder of lipid metabolism.
Neurological and cutaneous features characterize this syndrome.
The underlying abnormality is a deficiency in phytanic acid, displacing unsaturated fatty
acids as linolenic acid from tissue lipids.
Clinical Manifestations
Skin manifestations are mainly dryness of the skin, which simulate icthyosis vulgaris.
General manifestations begin early in childhood similar to retinitis pigmentosa with
different neurological (polyneuropathy), ataxia, cardiac and bone manifestations.

Various neurological changes occur, including deafness, cerebellar degeneration,


polyneuropathy, and retinitis pigmentosa and cardiac abnormalities.
Refsums syndrome can be diagnosed by lipid analysis of the blood or the skin. Normally no
or very little phytanic acid is found in the blood (0-33 mumol/l).
Treatment
Treatment by a phytanic acid-free diet, in which green vegetables and dairy products are
excluded, has been used. Plasma exchange in conjunction with diet.

ABNORMAL AMINO - ACIDS METABOLISM


These changes are recessively transmitted error of metabolism of amino acids leading to
different skin manifestations. The skin manifestations depend on the specific amino-acid
metabolism abnormality.

ALKAPTINURIA
This syndrome is due to deficiency in homogentisic acid oxidase leading to accumulation of
homogentisic acid that can be detected in urine.
Clinical Features
In early life: dark urine and sweat.
Arthropathy of spines and knees due to chondreal cartilage thickening.
In older age groups the skin of forehead, ears, cheeks and around the eyes is pigmented.
Pigmentation of the sclera.

HOMOCYSTINURIA
This disease is due to disorder in methionin metabolism due to an absence of hepatic
cystathione synthetase causing abnormality in collagen formation.
Clinical Features
The clinical manifestations appear early, in the first year of life.
Thin, yellowish skin and atrophic scars.

Fine sparse hair, which brittles easily due to disulfide bond reduction.
Intravascular clotting leading to livedo reticularis.
Treatment
Diet low in methionin.
Supplement by pyridoxine and cysteine may give good improvement.

HARTNUP DISEASE
This error of metabolism of tryptophane leads to nicotinic acid deficiency.
The changes occur early in infancy due to unabsorbed tryptophene, which is broken into the
gut to indoles that is absorbed, metabolized and excreted in urine as indican.
Clinical Features
Skin manifestations are like pellagra in the form of dry, scaly and sharply demarcated rash
on the sun-exposed areas.
Photosensitivity.
Neurological manifestations: ataxia and mental retardation.
Diagnosis
By the clinical picture.
Pellagra like eruption.
Neurological manifestations, ataxia and mental disturbances.
Urine examination shows increase in indican and monocarboxylic amino acid.
Treatment
Nicotinamide.
Treatment of skin manifestations by emollients and keratolytics as topical salicylic acid in an
ointment base alone or in combination with steroids (Locasalene).
Sunscreens and avoiding too much exposure to sunlight.

LYSOSOMAL STORAGE DISEASE


These metabolic disorders are due to a defect in specific enzymes leading to accumulation of
intermediary metabolic products in lysosomal organelles.
These syndromes include Hurlers syndrome, Chediak-Higash syndrome and others.

LITTERER-SIWE DISEASE
This disease appears early in infancy in the first months of life.
Clinical Features
Skin manifestations
The skin manifestations are brown, scaly papules on the seborrheic areas on the scalp,
behind the ears, naso-labial folds and mid chest.
Systemic manifestations include purpura, systemic histiocytosis and malignancy.
Most infants die in the first two years from infections mainly due to pneumonia.
Treatment
Treatment is not always curative.
Antibiotics for pulmonary infections.
Corticosteroids.
Cytosine and blood transfusion can be tried.

ANDERSONS FABRY DISEASE


(Lipoangiokeratoma)
This is a rare X linked recessive trait storage disorder leading to accumulation of ceramide
trihexose in the tissues mainly in the endothelium of smooth muscles and blood vessels.
Clinical Manifestations
This syndrome has complex skin and systemic manifestations.
Skin manifestations begin to appear in the adult age in the form of dark blue or black
lesions mainly on the back, abdomen, buttocks, umbilicus and mouth.

Systemic manifestations appear early in childhood in the form of weakness, malaise,


cramps. In adult age, there is vague symptoms as fever after exercise with decreased
sweating, neurological and psychological episodes and severe pain of the feet and hands.
Serious and even fatal complications in older age groups are due to cardiac, renal and
cerebrospinal accidents.

MORQUIO AND HURLER SYNDROMES


Both of these syndromes are genetic diseases due to error of metabolism of
mucopolysaccharides leading to greatly thickening of the skin due to deposit of
mucopolysaccharides in tissues limiting joint movements.

REFERENCES
1

Elder GH. Recent advances in the identification of enzyme deficiencies in the


porphyrias. Br J Dermatol 1983; 108: 729-34.

Kappas A, Sassa S, Galbraith RA et al. The porphyrias. In: Scriver CR, Beaudet AL,
Sly WS et al., eds. The Metabolic Basis of Inherited Disease 6th edn. New York:
McGraw-Hill, 1989: 1305-65.

Moore MR, McColl KEL, Rimington C et al. Disorders of Porphyrin Metabolism. New
York: Plenum Medical, 1987: 15.

Deybach JC, Grandchamp B, Grelier M et al. Prenatal exclusion of congenital


erythropoietic porphyria (Gunthers disease) in a foetus at risk. Hum Genet 1980;
53: 217-21.

Nitowsky HM, Sassa S, Nakagawa A et al. Prenatal diagnosis of congenital


erythropoietic porphyria. Pediatr Res 1978; 12: 455.

Moser HW, Moser AB, Chen WW et al. Ceramidase deficiency. Farbers


lipogranulomatosis. In: Scriver CR et al., eds.

The Metabolic Basis of Inherited Disease 6th edn. New York: McGraw-Hill, 1989:
1645-54.

Barranger JA, Ginns EI. Glucogyl ceramide lipidoses: Gauchers disease. In: Scriver
CR et al., eds. The Metabolic Basis of Inherited Disease 6th edn. New York: McGrawHill, 1989: 1677-98.

Goldblatt J, Beighton P. Cutaneous manifestations of Gaucher disease. Br J Dermatol


1984; 111: 331-4.

10

Brady RO, King FM. In: Hers HG, van Hoof F, eds. Lysosomes and Storage Disease.
New York: Academic Press, 1973: 439.

11

Forsythe WI, McKeown EF, Neill DW. Three cases of Niemann-Pick disease in children.
Arch Dis Child 1959; 34: 406-9.

12

Guthrie R, Susi A. A simple phenylalanine method for detecting phenylketonuria in


large populations of newborn infants. Pediatrics 1963; 32: 338-43.

13

Rosenberg LE, Scriver CR. Disorderes of amino acid metabolism. In: Bondy PK,
Rosenberg LE, eds. Metabolic Control and Disease. Philadelphia: WB Saunders, 1980:
709.

14

Niederweiser A, Curtius H-CH. In: Bickel H, Wachtel H, eds. Inherited Diseases of


Amino Acid Metabolism. New York: Thieme Verlag, 1985; 104.

15

Levy RI, Rifkind BM. Diagnosis and management of hyperlipo-proteineuria in infants


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