Syn .: Bullous congenital ichthyosiform erythroderma, epidermolytic hyperkeratosis, Brocq congenital bullous ichthyroidism.
Def .: A rare form of congenital ichthyosis associated with hyperkeratosis and epidermal separation caused by acantokeratolysis.
Epid .: Frequency 1: 300 births.
Etiol .: Mutation of the keratin 1 or 10 gene. Keratins 1 and 10 physiologically occur in the zone above the basal layer of the epidermis, their damage leads to the disturbance of tonophilic formation and the separation of blisters above the basal layer. Autosomal dominant inheritance.
Loc: Generalized skin involvement, particularly intense on the nape, armpits, inguinal areas, and joint flexions.
Clinical: Erythroderma present at birth, disseminated bullous lesions, hyperkeratotic lesions (Fig. E-12 and E-13). A gradual regression of erythematous-blistering changes is observed, but the appearance of thickened hyperkeratosis foci with a papillary surface and a dark color. Heat intolerance. The skin gives off an unpleasant odor due to frequent secondary infections. There may be pressure blisters. Some patients (approx. 60%) have keratoderma of the hands and feet (keratin mutation 1).
Hist .: Thickening of the epidermis due to acanthosis and hyperkeratosis. In the granular layer and the upper part of the spinous layer numerous perinuclear aquatic warblers and large clusters of keratohialin grains. Acantokeratolysis – separation of the epidermis due to cytolysis above the basal layer, swelling of the granular layer, loss of intercellular connections. The keratinocytes in the basal layer are normal. In the dermis, there is a slight lymphocytic infiltrate in the papillary layer. In the electron microscope visible swelling of the epidermis and acantholysis – clusters of tonophilic laments arranged around cell nuclei, desmosomes torn to varying degrees and concentrated between keratinocytes.
DR: In newborns – epidermolysis bullosa hereditaria, staphylococcal scalded skin syndrome, incontinentia pigmenti, herpes virus infection. In older children, Siemens’ bullous ichthyosis, porcupine ichthyosis, papillary epidermal moles.
Healing: Systemic treatment with oral retinoids (acitretin at the lowest possible dose), and periodic antibiotics for secondary infections oozing skin surfaces. Topical treatment: emollients, mild keratolytic agents, in the case of skin infections – ointments with antibiotics for limited areas.
Year: Variable mileage. The ease of blistering with minor trauma decreases in childhood. Blisters appear rarely in some patients, and in some patients the severity of skin lesions is less severe after puberty.
DIG. E-12. Inborn ichthyosis erythroderma, bullous type. Erythema with blistering epidermis creeping.
DIG. E-13. Inborn ichthyosis erythroderma, bullous type. Bullous lesions with foci of hyperkeratosis.
Lit .: [1] Burns T., Breathnach S., Cox N., Griffi ths Ch .: Rook’s Textbook of Dermatology. Blackwell Science 2004, vol. I; 34.1-34.53. [2] Mallory SB, Bree A., Cher P .: Pediatric Dermatology. Czelej Publishing House, Lublin 2007, 379-86. [3] Braun-Falco O., Plewig G., Wolff HH, Burgdorf WHC: Dermatology. ed. half. Gliński W., Wolska H., Wydawnictwo Czelej, Lublin 2002, vol. I, 671-686. [4] Miklaszewska M., Wąsik F. (eds.): Pediatric dermatology. Volumed Wrocław 2000, vol. II; 343-94. [5] Irvine A .: Inherited defects in keratins. Clin Dermatol 2005, 23; 6-14.
Source: A. Kaszuba, Z. Adamski: “Lexicon of dermatology”; XNUMXst edition, Czelej Publishing House