Disorders of Hair and Nails

Acro-dermato-ungual-lacrimal-tooth (ADULT) syndrome is a rare form of autosomal dominant ectodermal dysplasia due to mutations in the TP63 gene, a locus that has also been implicated in other syndromic forms of ectodermal dysplasia. It shares many phenotypic characteristics with other TP63 gene mutation syndromes, often making an accurate diagnosis difficult. Long-term management and follow-up of the various sequelae of ectodermal dysplasia require an accurate diagnosis. We report a familial case of ADULT syndrome in a daughter, mother, and son and provide a brief review of the clinical characteristics of this syndrome.

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“… TF, transcription factor; AD, autosomal dominant; ~, varying degree effected; +, frequently positive; –, frequently negative . …”

Section: Discussionmentioning

confidence: 99%

“…Mutations in TP63 —a gene that plays an important role in the maturation of ectodermal, orofacial, and limb tissue—are responsible for ADULT, AEC, EEC, LMS, RHS, and SHFM syndromes . Classically, there are several distinguishing features of these syndromes (Table ); practically, there is considerable clinical overlap.…”

Section: Discussionmentioning

confidence: 99%

Acro‐Dermato‐Ungual‐Lacrimal‐Tooth Syndrome: An Uncommon Member of the Ectodermal Dysplasias

Whittington

Stein

Kenner‐Bell

2016

Pediatric Dermatology

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“…5 Pacientes acometidos têm aparência típica e se parecem mais uns com os outros do que com seus próprios irmãos. 2 As alterações clínicas compreendem: sudorese ausente ou reduzida, hipotricose, anodontia total ou parcial. Na apresentação completa da síndrome, podem-se encontrar: rugas frontais, nariz em sela, lábios espessos evertidos, orelhas grandes, tíbia proeminente e pele seca.…”

Section: Comentáriosunclassified

“…Os cabelos são esparsos, finos, secos, permanentemente curtos e pouco pigmentados. 2 As sobrancelhas são esparsas ou ausentes, mas os cílios são normais, em geral. Os pêlos corporais podem estar ausentes ou esparsos.…”

Section: Comentáriosunclassified

“…1 O tratamento baseia-se em banhos frios, ambiente fresco, roupas leves e restrição de excessos físicos. [1][2][3] Visitas ao dentista devem ser regulares e pode haver intervenção dentária, como próteses ou implantes dentários, para preservar a função e a estética. Colírios e irrigação nasal podem compensar a secreção glandular reduzida.…”

Section: Comentáriosunclassified

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Caso para diagnóstico

Succi

Fontenelle

2009

An. Bras. Dermatol.

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A síndrome de Christ-Siemens-Touraine (displasia ectodérmica hipoidrótica) é uma síndrome rara, caracterizada pela tríade de sudorese reduzida ou ausente, hipotricose e dentição defeituosa. Bossas frontais proeminentes, nariz em sela, lábio inferior espesso e queixo pontudo fazem com que os pacientes tenham uma fácies característica e semelhante. A síndrome completa ocorre em homens, visto tratar-se de herança recessiva ligada ao X.

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Knuckle lesions in inherited and acquired disorders

Adya

Inamadar

Palit

et al. 2021

Indian Dermatology Online Journal

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Skin lesions occurring over the knuckles can be a primary or characteristic manifestation of a disorder. Characteristic knuckle lesions may also be important cutaneous features of various internal disorders when they serve as useful clinical pointers, as well as may speak of the disease severity in certain instances. Furthermore, knuckle lesions also speak of various external factors as the underlying cause of the disease/lesions, such as trauma – occupational or otherwise, and contact dermatitis. Although knuckles essentially imply dorsal aspect of the metacarpophalangeal joints, many of the lesions described as those 'involving the knuckles' are seen over the proximal and/or less frequently, the distal interphalangel joints as well. This review presents a compilation of various inherited and acquired dermatoses and dermatological manifestations of various internal disorders associated with different forms of knuckle lesions.

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Disorders of Hair and Nails

Cited by 4 publications

References 362 publications

Acro‐Dermato‐Ungual‐Lacrimal‐Tooth Syndrome: An Uncommon Member of the Ectodermal Dysplasias

Acro‐Dermato‐Ungual‐Lacrimal‐Tooth Syndrome: An Uncommon Member of the Ectodermal Dysplasias

Caso para diagnóstico

Knuckle lesions in inherited and acquired disorders

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