Journal of Clinical and Investigative Dermatology
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Case Report
Netherton Syndrome in Two Sisters, One with Generalized Lentiginosis: A Case Report from Yemen
Alshami MA1*, Alshami AM2, Alshami HM1 and Lutf RM1
1. Department of Dermatology, Faculty of Medicine and Medical Sciences,
Sana’a University, Sana’a, Yemen
2 Department of Conservative Dentistry, Faculty of Dentistry, Sana’a University, Sana’a, Yemen
2 Department of Conservative Dentistry, Faculty of Dentistry, Sana’a University, Sana’a, Yemen
*Address for Correspondence:Mohammad Ali Alshami, Department of Dermatology, Faculty of
Medicine and Medical Sciences, Sana’a University, Sana’a 1064, Yemen. E-mail Id: mohammadalshami62@gmail.com
Submission: 15 June, 2026
Accepted: 23 July, 2026
Published: 26 July, 2026
Copyright: © 2026 Alshami MA, et al. This is an open access
article distributed under the Creative Commons Attribution License,
which permits unrestricted use, distribution, and reproduction in any
medium, provided the original work is properly cited.
Keywords:Netherton Syndrome; Congenital Ichthyosiform
Erythroderma; Trichorrhexis invaginata; Ichthyosis Linearis Circumflexa;
Hyper-Ige
Abstract
Netherton syndrome is a rare, multisystem, autosomal recessive
genodermatosis characterized by the triad of atopic manifestations,
congenital ichthyosiform erythroderma, and trichorrhexis invaginata
(TI). We describe two sisters, aged 9 and 21 years, who presented to
our dermatology outpatient clinic with short, brittle hair, ichthyosis,
hypereosinophilia, and elevated immunoglobulin E (IgE) levels. The
older sister also exhibited generalized lentiginosis. Dermoscopy of the
scalp and eyebrow hairs demonstrated the characteristic features
of TI, which were confirmed by light microscopic examination of
plucked hairs. The clinical diagnosis of Netherton syndrome was based
on the characteristic cutaneous features, hair shaft abnormalities,
hypereosinophilia, and elevated serum IgE levels.
Introduction
Netherton syndrome (NS) is an autosomal recessive
genodermatosis caused by pathogenic variants in SPINK5.[1] It
is characterized by the triad of atopic manifestations, congenital
ichthyosiform erythroderma, and trichorrhexis invaginata (TI),
with an estimated incidence of 1 in 100,000–200,000 live births.[2]
Ichthyosis linearis circumflexa (ILC), a hallmark feature of NS, may
develop later in childhood or adulthood.[3] TI may be difficult to
detect because only a subset of hairs, most commonly the eyebrows,
is affected.[4] We report two sisters who presented with ichthyosis,
short, brittle hair, food allergies, hypereosinophilia, and elevated
serum immunoglobulin E (IgE) levels and were clinically diagnosed
with NS. Notably, the older sister also presented with the rare finding