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Arch Dermatol. 2004;140:1275-1280.

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Diagnosis: Netherton syndrome.

MICROSCOPIC FINDINGS AND CLINICAL COURSE

Histologic examination revealed parakeratosis with psoriasiform epidermal hyperplasia, focal absence of the granular layer, and intracorneal as well as intraepidermal accumulations of neutrophils (Figure 3). Analysis of the hair shaft demonstrated characteristic "bamboo hairs" (trichorrhexis invaginata) (Figure 4). Genetic analysis of lymphocytic DNA from a peripheral blood sample confirmed the clinicopathologic diagnosis of Netherton syndrome by revealing 2 distinct mutations in the SPINK5 gene. The first mutation concerned exon 26 (2468insA), and the second was found in exon 16, generating an alternative splice site.

Figure appears in full text version. Figure 3.

Figure appears in full text version. Figure 4.

The patient's skin condition deteriorated markedly during systemic retinoid (acitretin, 25 mg/d) and psoralen–UV-A therapy, and treatment with both agents was discontinued after 2 and 9 weeks, respectively. A massive erythrodermic flare required systemic steroid administration. After the steroid therapy was discontinued, however, generalized pustulosis developed but cleared after treatment with systemic antibiotics and extracorporal photophoresis. The patient's . . . [Full Text of this Article]

DISCUSSION

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Arch Dermatol. 2004;140(10):1275-1280.
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