Comèl-Netherton syndrome

ARTICLE

A two and a half-year-old boy was referred to our department because of recurrent eczematous skin lesions mainly on his limbs. His parents described the first skin changes at the age of six months. His hair was thin from birth, not growing longer than a few centimeters. His family history was unremarkable. On clinical examination we found multiple serpiginous, erythematous scaling lesions on both legs. His limbs were partly covered with erythematosquamous plaques (Fig. 1). The trunk and the arms were only mildly involved. His hair was dry, brittle and lusterless (Fig. 2).

Routine laboratory examinations were, apart from a shift to eosinophils (6%) and an elevated IgE level (1,700 IU/l), unremarkable.

We established the diagnosis of Comèl-Netherton syndrome by light microscopy of the hair shafts. We found typical trichorrhexis invaginata, the hallmark of Comèl-Netherton syndrome (Fig. 3).

Comments

Comèl-Netherton syndrome is an autosomal recessive disorder, characterized by typical hair and skin changes. Ichthyosis linearis circumflexa, first described by Comèl 1949 [1], trichorrhexis invaginata or bamboo hair, first described by Netherton 1958 [2], and atopic manifestations with elevated IgE levels and hypereosinophilia are typical clinical findings [3]. Congenital ichthyosis and neonatal erythroderma are described as well as hypernatremic dehydration in the neonate, failure to thrive and mental and neurological retardation [4]. The diagnosis can be confirmed or established by microscopic examination of hair shafts, not only from the scalp but also from the eyebrows, increasing the chance of confirming the diagnosis [5].

The gene mutation is localized on chromosome 5q32. So far 11 different mutations in the SPINK5 gene encoding LEKTI, a serine protease inhibitor (lympho-epithelial Kazal-type related inhibitor) have been described [6]. Proteolysis plays an important role in epithelial formation and keratinocyte differentiation, and defects may cause a failure of cornification in affected persons.

References

1. Comèl M. Ichthyosis linearis circumflexa. Dermatologica 1949; 98: 133-6.

2. Netherton EW. A unique case of trichorrhexis nodosa-bamboo hairs. Arch Dermatol 1958; 78: 483-7.

3. De Felipe I, Vazquez-Doval FJ, Vincente J. Comel-Netherton syndrome: a diagnostic challenge. Br J Dermatol 1997; 137: 468-9.

4. Plantin P, Delaire P, Guillet MH, Labouche F, Guillet G. Syndrome de Netherton : aspects actuels. A propos de neuf cas. Ann Dermatol Venereol 1991; 118: 525-30.

5. Powell J, Dawber RP, Ferguson DJ, Griffiths WA. Netheron's syndrome: increased likehood of diagnosis by examining eyebrow hairs. Br J Dermatol 1999; 141: 544-6.

6. Chavanas S, Bodemer C, Rochat A, Hamel-Teillac D, Ali M, Irvine AD, Bonafe JL, Wilkinson J, Taieb A, Barrandon Y, Harper JI, de Prost Y, Hovnanian A. Mutations in SPINK5, encoding a serine protease inhibitor, cause Netherton syndrome. Nature Genet 2000; 25: 141-2.