Trichoscopy in Unveiling the Triad of Netherton Syndrome
Netherton syndrome (NS) is a rare autosomal recessive disorder characterized by the triad of congenital ichthyosiform erythroderma or ichthyosis linearis circumflexa (ILC), hair shaft abnormalities, and atopic diathesis (elevated serum IgE) caused by mutations in serine protease-inhibitor (SPINK5) g...
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| Format: | Article |
| Language: | English |
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Wolters Kluwer Medknow Publications
2025-01-01
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| Series: | Clinical Dermatology Review |
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| Online Access: | https://journals.lww.com/10.4103/cdr.cdr_42_23 |
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| author | H Bangaru D Ashwini |
| author_facet | H Bangaru D Ashwini |
| author_sort | H Bangaru |
| collection | DOAJ |
| description | Netherton syndrome (NS) is a rare autosomal recessive disorder characterized by the triad of congenital ichthyosiform erythroderma or ichthyosis linearis circumflexa (ILC), hair shaft abnormalities, and atopic diathesis (elevated serum IgE) caused by mutations in serine protease-inhibitor (SPINK5) gene located on chromosome 5q31–32. Here, we present a case of a 16-year-old female born to second-degree consanguineous marriage who presented with a history of atopy, generalized xerosis, plaques with serpiginous borders, and double-edged scales over the trunk, upper and lower limbs, lichenification in flexures, sparse eyelashes, and eyebrows predominantly over lateral half was noted. Hair appeared short, lusterless, and brittle with profuse scaling over the scalp and eyebrows. Trichoscopy showed trichorrhexis nodosa, “golf-tee” hair, “bamboo” hair, and “matchstick” hair over eyebrows. Serum IgE levels were raised. Skin biopsy was suggestive of ILC. Diagnosis of NS was made. The first line of treatment is topical therapy with emollients, topical corticosteroids and calcineurin inhibitors, Narrow band- ultraviolet B (NB-UVB), and infliximab. |
| format | Article |
| id | doaj-art-89f323ef6dbf487391ed94a40ea27f5b |
| institution | Kabale University |
| issn | 2542-551X 2542-5528 |
| language | English |
| publishDate | 2025-01-01 |
| publisher | Wolters Kluwer Medknow Publications |
| record_format | Article |
| series | Clinical Dermatology Review |
| spelling | doaj-art-89f323ef6dbf487391ed94a40ea27f5b2025-02-06T05:07:41ZengWolters Kluwer Medknow PublicationsClinical Dermatology Review2542-551X2542-55282025-01-0191767810.4103/cdr.cdr_42_23Trichoscopy in Unveiling the Triad of Netherton SyndromeH BangaruD AshwiniNetherton syndrome (NS) is a rare autosomal recessive disorder characterized by the triad of congenital ichthyosiform erythroderma or ichthyosis linearis circumflexa (ILC), hair shaft abnormalities, and atopic diathesis (elevated serum IgE) caused by mutations in serine protease-inhibitor (SPINK5) gene located on chromosome 5q31–32. Here, we present a case of a 16-year-old female born to second-degree consanguineous marriage who presented with a history of atopy, generalized xerosis, plaques with serpiginous borders, and double-edged scales over the trunk, upper and lower limbs, lichenification in flexures, sparse eyelashes, and eyebrows predominantly over lateral half was noted. Hair appeared short, lusterless, and brittle with profuse scaling over the scalp and eyebrows. Trichoscopy showed trichorrhexis nodosa, “golf-tee” hair, “bamboo” hair, and “matchstick” hair over eyebrows. Serum IgE levels were raised. Skin biopsy was suggestive of ILC. Diagnosis of NS was made. The first line of treatment is topical therapy with emollients, topical corticosteroids and calcineurin inhibitors, Narrow band- ultraviolet B (NB-UVB), and infliximab.https://journals.lww.com/10.4103/cdr.cdr_42_23double-edged scalesichthyosis linearis circumflexanetherton syndrometrichorrhexis invaginatatrichoscopy |
| spellingShingle | H Bangaru D Ashwini Trichoscopy in Unveiling the Triad of Netherton Syndrome Clinical Dermatology Review double-edged scales ichthyosis linearis circumflexa netherton syndrome trichorrhexis invaginata trichoscopy |
| title | Trichoscopy in Unveiling the Triad of Netherton Syndrome |
| title_full | Trichoscopy in Unveiling the Triad of Netherton Syndrome |
| title_fullStr | Trichoscopy in Unveiling the Triad of Netherton Syndrome |
| title_full_unstemmed | Trichoscopy in Unveiling the Triad of Netherton Syndrome |
| title_short | Trichoscopy in Unveiling the Triad of Netherton Syndrome |
| title_sort | trichoscopy in unveiling the triad of netherton syndrome |
| topic | double-edged scales ichthyosis linearis circumflexa netherton syndrome trichorrhexis invaginata trichoscopy |
| url | https://journals.lww.com/10.4103/cdr.cdr_42_23 |
| work_keys_str_mv | AT hbangaru trichoscopyinunveilingthetriadofnethertonsyndrome AT dashwini trichoscopyinunveilingthetriadofnethertonsyndrome |