Wariant zaskórnikowy choroby Dariera u pracownika rafinerii ropy naftowej

Darier’s disease (DD), a genetic disorder of keratinization with autosomal dominant inheritance, was first described by Darier and White independently in 1889. A defect in the calcium pump SERCA2, involving a mutation in the ATP2A2 gene (chromosome-12q23-24), has been incriminated for abnormal desmosomal adhesions leading to abnormal keratinization [1, 2]. It classically presents with follicular and extrafollicular greasy hyperkeratotic papules and plaques, arising primarily in seborrheic areas [3]. Less common variants that have been reported include hypopigmented, vesiculobullous, acute, cornifying, linear/zosteriform, hypertrophic and acral hemorrhagic subtypes [2]. Comedonal DD (CDD) is an extremely rare variant [2, 3]. Despite an intense medical literature search, we could find only 14 published cases of this variant (table 1). Here we report a rare case of CDD in an oil refinery worker.
A 33-year-old man presented with itchy skin eruption on the face, trunk and limbs for the past 7 months. He was otherwise healthy and none of his family members had a similar disease. He initially noticed open comedones and greasiness on the face a month after joining the oil refinery. These symptoms spread slowly to involve the trunk and limbs. There was no history of photosensitivity, but aggravation of itching on heat exposure occurred. Cutaneous examination revealed greasy facial skin with multiple open comedones all over the face and neck. Numerous open comedones and multiple erythematous hyperkeratotic follicular papules were present over the chest and back (fig. 1), and sparsely on the abdomen, arms and legs. In a few places, comedones had coalesced to form plaques. Multiple pits were present on palms. The rest of the dermatological and systemic examinations were unremarkable. Routine laboratory tests were normal. Serum estimation of chloracnegens was not done due to unavailability. Punch skin biopsy from a back lesion showed dilated follicular infundibula filled with keratotic material and numerous dyskeratotic cells (corps ronds and grains). At the lateral aspect and base of the follicular infundibulum, suprabasal acantholysis with clefts, lacunae, and villi were seen. Superficial dermis showed perivascular lymphohistiocytic infiltrate (figs. 2 A, B). An investigation for mutation in the ATP2A2 gene was not done due to unavailability. Based on clinical examination and histopathological findings, he was diagnosed with CDD.
Comedonal DD is an...


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