Comel-netherton syndrome Q80.3

Very rare ichthyosiform erythrodermia that is already present at birth and can be classified between ichthyosis and erythrokeratoderma. With hair anomalies picture of the Netherton syndrome.

Autosomal recessive inheritance, mutations in the SPINK5 gene (defect identified on chromosome 5q32). The gene encodes a multidomain serine protease inhibitor (Kazal type 5 protein [LEKTI]) expressed mainly in epithelial and lymphoid tissues. There is premature and increased degradation of corneodesmosomes

n, disruption of desquamation, ichthyotic efflorescences with impaired permeability and barrier function of the epidermis.

At birth diffuse reddening (erythroderma) of the integument. The erythroderma is accompanied by severe failure to thrive with recurrent tendency to infection. Diarrhoea symptoms. In the course of the first decade of life the skin changes: there is the formation of wandering, garland-like, map-like, brown-red hyperkeratoses fringed by double scales, with strongly changing form of the individual skin lesions. Lichenification of the large flexures of the joints. Intermittent blistering. Frequent accompanying hair anomalies ( bamboo hairs, trichorrhexis nodosa, pili torti), alopecia.

Atopy and disturbances in amino acid metabolism are also described. The tendency to type I allergies is increased. The total IgE is usually massive (>5000 kU/l). Furthermore, there is a tendency to HPV-induced skin diseases. The clinical picture is often confused with atopic dermatitis.

Increased activity of acid phosphatases as well as β-glucuronidase and transglutaminase in the skin scales. Alteration of the keratin composition, similar to psoriasis vulgaris.

• Acanthosis, hyperkeratosis, parakeratosis.
• Electron microscopy: proliferative hyperkeratosis with abnormal keratinization. Round-oval cytoplasmic PAS-positive corpuscles in the stratum corneum.

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