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Iktiosis

The term ichthyosis is derived from the greek word ichthys, meaning fish. Ichthyosis is not one

disease but a group of disease in which the homeostatic mechanism of epidermal cell kinetics or

differentiation is altered, resulting in the clinical appearance of scale. Because these disorders

manifest as abnormal differentiation of the epidermis, the term disorders of cornification ispreferred to ichthyosis

Treatment

Simptomatik treatment with alphahydroxy acids, such as l;actic acid or !" ammonium lactate

lotion, is helpful. #atients with atopic dermatitis and ichthyosis vulgaris may find that these

products sting. $ther compounds with hydrating and keratolytic properties are also beneficial.

%reams containing &" urea are effective humectants. 'esponse to topical retinoids has been

variable. (idespread use of topical salicylic acid in children may lead to salicylism, and salicylic

acid products are best reserved for locali)ed thicker areas, when *&" area has failed. Baths mayhelp by hidrating the horny layer, but the water must be sealed in with an evaporation barrier

such as white petrolatum. Topical calcipotriene ointment has proved effective in a variety of

ichthyosis and topical maxacalcitol, a vitamin d+ analogue, has been used successfully in mosaic

type bullous congenital ichtyosisform erythroderma. pplication of a *&-&" solution of

propylene glycol in water under an occlusive suit removes the scales. #ropylene glycol can

produce renal failure and cardiac toxicity when given systemically, but few reports of adverse

effects have been noted with topical use. /any patient benefit from the use of a sauna suit, even

without the use of propylene glycol, so the risk-benefit ratio of adding the propylene glycol to

the regimen should be evaluated carefully.

Ichtyosis vyulgaris

Iktiosis vulgaris adalah autosominal dominal inherited dan biasanya dengan onset di anak-anak

antara +-! bulan. (ith fine scales the appear 0pasted on1 over the entire body. 2arying

degress of dryness of the skin may be evident. The scales are coarser on the flower extremities

than they are on the trunk. The extensor surfaces of the extremities are most prominently

involved. The axillary and gluteal folds are usually not affected. lthough the antecubital and

popliteal fossae are usually spared by ichtyosis vulgaris, actopic changes may be present, as

these disorders are fre3uently associated. ccentuated skin markings and hyperkeratosis of the

palms are common features. 4eratosis pilaris is fre3uently associated. The scalp is involved,with only slight scaling. 4eratotic lesions may be found on the palmar creases 5keratosis

punctata6. topy manifested as hay fever, ec)ema, asthma, or urtikaria is fre3uently present.

The course is favorable, with limited findings by the time the patient is an adult.

7istologically, there is a moderate degree of compact eosinophilic orthokeratosis. The granular

layer is reduced or absent, and keratohyalin granules may appear spongy or fragmented on

electron microscopy. The spinous layer is of normal thickness. 8ilaggrin is reduced in involved


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epidermis, and profilaggrin m'9 is unstable in keratinociytes, this is a retention

hyperkeratosis, with a normal rate of epidermal turnover.

The differential diagnosis includes severe xerosis, x-linked ichtyosis, and ac3uired ichtyosis.

X-linked ichthyosis

:-linked ichthyosis is transmitted only to males b hetero)ygous mothers as an x-linked recessive

trait. This condition result from a deficiency of steroid sulfatase 5arly sulfatase %6, and occurs

once in every !&&&-&&& male births. $nset is usually before + months of age. The children are

commonly born via caesarian section, with failure of progression of labor owing to a placental

sulfatase deficiency. Scale are dark, large, and prominent on the anterior neck, extensor surfaces

of the extremities, and the trunk. The sides of the neck are invariably involved, giving the child

an unwashed look. The elbow and knee flexures are relatively spared, as are the face and scalp;

the palms and soles are nearly always spared.

The condition may be confused with ichthyosis vulgaris, but typically has darker scales and

demonstrates dramatic clearing during the summer months. diagnosis of :-linked ichthyosis

is likely if the abdomen is more involved than the back and if the ichthyosis extends down the

entire dorsum of the leg. 4eratosis pilaris is not present, and the incidence of atopy is not

increased. %orneal opacities 5which do not affect vision6 are seen by slit-lamp examination on

the posterior capsule or descemet?>s6 migrate much more

rapidly, and cholesterol sulfate is elevated in serum, erythrocyte membranes, and keratin. The

reduced en)yme activity can be assessed in fibroblasts, keratinocytes, leukocytes, and prenatally

in amniocytes.

Multiple sulfatase deficiency

#atients with multiple sulfatase deficiency display on overlap of steroid sulfatase deficiency,

mucopolysaccharidosis, and metachromatic leukodystrophy. The scaling is sometimes milderthan :-linked recessive ichthyosis. There may be developmental delay, spastic 3uadriparesis,

and coarse facial features. 7istologic examination shows hyperkeratosis with a normal granular

cell layer. This autosomal-recessive disorder is caused by a lock of or deficiency in all known

sulfatases.


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Autosomal recessive ichtysosis

Biochemical and genetic studies have helped to define the specific subtypes. %linical features

often overlap, and in the past, the severity of the disease determined the classification.

Identification of specific defects, such as transaglutaminase and profilaggrin@filaggrin, are

important to define each disorder, and are the basis for classification of ichthyosis disorder.

Lamellar ichtiosis

Iktiosis lamellar is present at birth or becomes apparent soon after, and almost always involves

the entire cutaneous surface. =sually, a collodion-like membrane encases the baby at birth, then

des3uamates over the first !-+ weeks of life. The ensuing iktiosis is characteri)ed by large 5-

mm6, grayish brown scales, which are strikingly 3uadrilateral, free at the edges, and adherent in

the center. In severe cases, the scales may be so thick that they are like armor plate. /oderate

hyperkeratosis of the palms and soles is fre3uently present. The follicles in most instances have

a crateriform appearance. Actropion is almost always present and is a helpful diagnostic sign.

>amellar ichtyosis is inherited as an autosomal recessive trait. bout half the patients have

decreased or absent transglutaminase 5T/6 activity. >$:A+ and >$:!B mutations

can produce a similar appearance. >amellar ichtyosis type ! has been associated with mutations

in the B%! gene.

In addition to the topical agents recommended for the treatment of other ichtyosis, ta)arotene

5ta)orac6 and orally administered retinoids can improve symptoms. The adverse effects of

prolonged oral retinoid therapy make their use for long term maintenance therapy difficult.

Nonbullous congenital iktiosiform eritroderma

most infants with nonbullous congenital iktiosiform eritroderma are born enclosed in a

constricting parchment C or collodion - like membrane. They also have ectropion of the eyelids,

which has led to confusion with lamellar iktiosis, and at one time the term lamellar iktiosis was

used for almost all patients with nonbullous autosomal recessive iktiosis. s mutations in

T/, >$:A+, or >$:!B can lead to either congenital iktiosiform eritroderma or iktiosis

lamellar, the separation of the entities is largely on the basis of the clinical phenotype.

(ithin !* hour of birth, fissuring and peeling begin, and large keratinous lamellae are cast off in

&-* days, coincident rapid improvement. s the membrane is shed, underlying redness and

scaling are apparent. enerali)ed involvement is the rule, including the face, palms, soles, and

flexures. %icatrial alopesia, nail dystrophy, and some ectropion are common. Scales may be

large and platelike on the legs but are likely to be fine on the trunk, face and scalp. The

condition has been found in association with neutral lipid storage disease.


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7istologically, parakeratosis and inflammation are seen more fre3uently in congenital

iktiosiform eritroderma than in iktiosis lamellar. The stratum corneum is usually thicker in

iktiosis lamellar, and is usually not parakeratotic.

Harlequin fetus

Is a severe disorder that affects the skin in utero, causing thick, horny, armor-like plates covering

the entire surface. The ears are rudimentary or absent, and eclabium and ectropion are severe.

The child is often stillborn or dies soon after delivery; however, with aggressive management,

there have been long term survivors. These survivors develop features of congenital iktiosiform

erytroderma or iktiosis lamellar. bsent or abnormal lamellar granules, a lack of extracellular

lipid lamellae, and lipid droplets in the stratum corneum have been reported. bnormalities of

profilaggrin and of 4 and 4 expression have been reported. 'ecessive inheritance has been

favored, and is supported by reports of consanguinity. Some reports suggest a dominant

mutation with parental mosaicism.

Bullous iktiosiform erytroderma

n autosomal dominantly inherited disorder, bullous congenital iktiosiform eytroderma

5epidermolitic hyperkeratosis, A746 is usually manifested by blisters at or shortly after birth.

>ater, thickened, horny, warty or spine-like, ridget scale predominate. They are particularly

prominent at the flexures. There is remarkable heterogeneity, particularly in regard to the degree

of hyperkeratosis, the extent of body surface involvement, presence or absence of eritrodema,

and palm and sole involvement. nd association with hypocalcemic vitamin ?-resistant ricked

has been reported. Apidermal nevi of the epidermolytic type are mosaic expression of

epidermolytic hyperkeratosis.

Apidermolitik hyperkeratosis is caused by mutations in the genes for keratins 4 and 4&.

4eratin distribution patterns in keratinocytes are abnormal, suggesting that there is in altered

assembly process of cornified cell envelopes in epidermolitik hyperkeratosis.

7istologically, the lesional skin demonstrates compact hyperkeratosis. The granular layer is

markedly thickened and contains coarse keratohyaline granules. Apidermal cells detach in the

granular cell layer and may appear disrupted. Alectron microsopy reveals the formation of

perinuclear haloes. These findings allow prenatal diagnosis by fetal skin biopsy. Apidermolitik

hyperkeratosis has been described as in incidental finding in normal skin, skin adDacent to benign

and malignant epidermal tumors, and normal oral mucosa. It may be more commonly seen in

association with dysplastic nevi than with banal nevi.

Short, intensive therapy with high-dose vitamin , E& &&& = of 3uasol daily for ! weeks,

produces modest clinical improvement. $thers have tried administering systemic retinoids, with

similar results; however, the patient


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basis. pplication of &," retinoic acid 5retin- cream6 has been used successfully. #yogenic

infection is a common problem, and appropriate antibiotics should be administered. water

solution of &" glycerin and +" lactic acid applied to wet skin can result in clinical

improvement. The disease tends to become less severe with age.

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