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THE ICHTHYOSIS
Ichthyoses
Ichthys (Greek) meaning fish A heterogenous group of skin diseases characterized by generalized scaling and, often, areas of thickened skin. Most types are inherited, and these usually present at birth. However, some forms are acquired Scales may vary in size, color, and body site
ICHTHYOSIS
May be accompanied by erythema, abnormalities in other parts of skin, and adnexal structured May be asso.w systemic findings, such as failure to thrive, increased susceptibility to infection, atopic dermatitis, neurosensoris deafness, neurologic and other disease Pathology is usually non-specific w. the exception of epidermolytic hyperkeratosis, neutral lipid storage disease. Refsum disease, and acquired ichthyosis associated w sarcoidosis
Clinical presentation
Several features are useful in distinguishing different forms of icthyosis: Age of onset Presence of collodion membrane at birth Quality of scale Presence/absence of erythroderma Abn. in other parts of the skin (e.g., palms & soles, ectropion, eclabium) & adnexal structures (e.g., alopecia, hair follicle / shaft abn) Involvement of other organ system
Clinical presentation
Visible scaling may be seen in some patients, w. flakes of stratum corneum varying in size from fine to coarse. There may be thickening of the skin w./wo. visible scale A family pedigree may clarify the pattern of inheritence. (the presence of consanguinity may suggest autosomal recessive inheritance)
ICHTHYOSIS VULGARIS
Onset: infancy / childhood The scale is most prominent on the extensor surfaces of the extremities, w. flexural sparing. The diaper area tends to be spared. There may be fine, white scale over large areas. Particularly on the lower extremities, which are often the most severely involved area, The scale may be centrally attached w. cracking (Superficial fissuring through the str. corneum) at the edges ).
ICHTHYOSIS VULGARIS
The disease was thought to be autosomal dominant. Recently, Mutations in the gene encoding profilaggrin (FLG) have been found to cause ichthyosis vulgaris. This finding clarifies the inheritance pattern as semi-dominant.
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The histopathologic findings of ichthyosis vulgaris may be distinctive in specimens taken from homozygotes, showing mild hyperkeratosis & absent granular layer. In heterozygotes, even when the granular layer is present on light microscopy, examination by electron microscopy can show keratohyalin granules that are small, abnormally shaped, & crumbly in appearance
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Biochemical studies of epidermis from patients w. ichthyosis vulgaris have shown absence or decrease of filaggrin and its precursor, profilaggrin
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However, in this condition, low levels do not indicate severe fetal morbidity. The asso. Between failure to initiate or progress labor & ichthyosis in the male offspring was not appreciated until later. Steroid sulfatase hydrolizes sulfate esters, ,which include cholesterol sulfate & sulfated steroid hormones.
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Sulfated fetal adrenal hormones undergo desulfation to estrogen, which are excreted in maternal urine. the absence of steroid sulfatase enzyme in the fetal placenta leads to low maternal urinary estrogens &, in some pregnancies, to a failure of labor to initiate or to progress normally.
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In males w. XLRI, stroid sulfatase enzyme activity is decreased or absent in many tissues, including epidermis, str. Corneum, & leukocytes, and in cultured fibroblasts. In addition, cholesterol sulfate, an enzyme substrate, accumulates in serum and in scale. Carrier females have been found to have leukocyte steroid sulfatase levels intermediate between those observed in normal individuals & those in affected males
EPIDERMOLYTIC HYPERKERATOSIS
Autosomal dominant Birth Heterogenous. May have verrucous, firm, hyperkeratotik (hystric)spines, often linearly arrrayed in flexural creases; blister; may have erythroderma &/or palmar/plantar keratoderma Skin infection; characteristic pungent odor Gene: KRT1, KRT10; in Vrner type (confined to palms/soles) KRT9
Protein: keratin1or keratin10; in Vrner type, keratin9 Structural protein abn. Leading to keratin intermediate filament dysfunction- epidermal fragility Hyperkeratosis; vacuolar degeneration of the epidermal granular (& often deeper layer); large irregular keratohyalin granules
ACQUIRED ICHTHYOSIS
Adult hood Can be manifest. Of systemic disease Has been described in asso. w. Malignancy, drug and metabolic disease, HIV and other infections and autoimmune condition
Acquired Ichthyosis
Hodgkin disease HIV (30%) Sarcoidosis SLE Dermatomyositis, Mixed connective tissue disease, eosinophilic fasciitis G.V.H D Cholesterol lowering agent Butirofenon (antipsychotic) Dixyrazine (major transquilizer) Nafoxidine (estrogen antagonist) Kava (psychoactive beverage)
Therapy
Simptomatik Fokus pada hidrasi lubrikasi keratolitik Topikal retinoid dan vitamin D preparations (hati-hati) Systemic retinoid (isotretinoin dan acitretin) can induced dramatic improvement, particulary useful in lamellar ichth.