Syn.: Nonbullous congenital ichthyosiform erythroderma, autosomal recessive lamellar ichthyosis with normal transglutaminase levels, erythrodermic lamellar ichthyosis.
Def .: Erythrodermic variant of lamellar ichthyosis with generalized skin involvement.
Epid .: Very rare but most common in the lamellar ichthyosis group. It occurs in people of all races, and the frequency of occurrence data is not always consistent (1: 10-000).
Etiol .: A type of genetic defect that is unexplained, possibly more than one gene. Possible mutations in chromosome 2q33-35. Autosomal recessive inheritance. Normal transglutaminase levels. The presumed cause is the damaged lipid transport to the lamellar bodies in the epidermis.
Loc .: All skin, including hands and feet, nails, scalp.
DIG. E-5. Inborn ichthyosis erythroderma, non-blistering variety. Erythema, fine scales and hair thinning.
DIG. E-6. Inborn ichthyosis erythroderma, non-blistering variety.
DIG. E-7. Inborn ichthyosis erythroderma, non-blistering variety.
Clinical: Pathological changes present at birth in the form of symptoms of a collodion (> 90%) child or erythroderma. After the colloidal membranes are separated, the intensity of erythroderma slightly decreases, abundant gray-white, fine, thin scales appear. Hair thinning (sometimes scarring alopecia focuses, especially on the temples), dystrophic changes in the nail plates, coexistence of keratoderma in the hands and feet (in about 70% of patients). In most patients, sweat secretion is absent or significantly reduced due to obstruction of the sweat glands by corneal masses and heat intolerance. Mental development is normal. dilated blood vessels in the papillary layer. In electron microscopy, abnormal lamellar bodies present in the stratum corneum.
DR: Inside warianty ichthyosis lamellaris, inside erytroderma.
But .: As in the form of ordinary ichthyosis. Oral retinoids in the form of intermittent treatment.
Year: No tendency to go away.
DIG. E-8. Inborn ichthyosis erythroderma, non-blistering variety
DIG. E-9. Inborn ichthyosis erythroderma, non-blistering variety
DIG. E-10. Inborn ichthyosis erythroderma, non-blistering variety
DIG. E-11. Inborn ichthyosis erythroderma, non-blistering variety
Lit .: [1] Braun-Falco O., Plewig G., Wolff HH, Burgdorf WHC: Dermatology. Czelej Publishing House, Lublin 2002, vol. I; 671-86. [2] Burns T., Breathnach S., Cox N., Griffi ths Ch .: Rook’s Textbook of Dermatology. Blackwell Science 2004, vol. I; 34.1-34.53. [3] Miklaszewska M., Wąsik F. (eds.): Pediatric Dermatology. Volumed, Wrocław 2000, vol. II; 343-394. [4] Ishida-Yammoto A., Tanaka H., Takahashi H. et al .: Inherited disorders of epidermal keratinization. J Dermatol Sci 1998, 18; 139-54.
Source: A. Kaszuba, Z. Adamski: “Lexicon of dermatology”; XNUMXst edition, Czelej Publishing House