Exuberant clinical picture of Buschke-Fischer-Brauer palmoplantar keratoderma in bedridden patient

Antônio, Joäo Roberto; Oliveira, Guilherme Bueno de; Rossi, Natalia Cristina Pires; Pires, Laiza Gabriela Garcia

doi:10.1590/abd1806-4841.20142923

Cited by 3 publications

(1 citation statement)

References 6 publications

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“…Although the etiology remains poorly understood, the loci located at 8q24.13-8q24.21 and 15q22-15q24 have been associated with PPK. Thorough analysis has shown that the collagen type XIV alpha 1 chain (COL14A1) and alpha and gamma adaptin binding protein p34 (AAGAB) genes, located in these loci, respectively, present pathogenic mutations in patients diagnosed with PPK and their family members (3). The AAGAB gene codes a 315 amino-acid protein that allows interaction between the gamma-adaptin and alpha-adaptin subunits to stabilize the AP2 adaptor during clathrin-mediated endocytosis (CME) (4).…”

Section: Introductionmentioning

confidence: 99%

A novel AAGAB mutation in a Peruvian family with punctate palmoplantar keratoderma

Gómez-García¹,

Salas‐Alanís

Bar-Fernandez³

et al. 2021

Acta Dermatovenerologica Alpina Pannonica Et Adriatica

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Buschke-Fischer-Brauer (BFB) disease is a rare keratoderma characterized by multiple hyperkeratotic lesions on the palms and soles, with an autosomal dominant pattern. In several countries, some genetic alterations have been associated with this clinical entity. A 68-year-old Peruvian woman presenting with hyperkeratotic lesions on both her palms and soles was diagnosed with BFB keratoderma. After sequencing of the genes that had previously been related to this disease, a mutation (c.249C>G) that was predicted to generate a termination codon (Tyr83*) was found in the alpha and gamma adaptin binding protein P34 gene (AAGAB). After treatment with 30% urea plus 10% salicylic acid, the patient experienced an improvement in her condition. Here we report a novel mutation in the AAGAB gene of a patient diagnosed with BFB keratoderma and a treatment that improved her symptoms.

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Section: Introductionmentioning

confidence: 99%

A novel AAGAB mutation in a Peruvian family with punctate palmoplantar keratoderma

Gómez-García¹,

Salas‐Alanís

Bar-Fernandez³

et al. 2021

Acta Dermatovenerologica Alpina Pannonica Et Adriatica

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Inherited Disorders of Cornification

Oji

Metze

Traupe

2016

Rook's Textbook of Dermatology, Ninth Edition

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The majority of keratinization disorders are referred to as Mendelian disorders of cornification. This is a very broad group, clinically characterized by hyperkeratosis or visible scaling or both. This chapter deals with the ichthyoses, palmoplantar keratodermas (PPKs) and miscellaneous cornification disorders such as porokeratoses. It is aimed primarily at dermatologists and physician scientists who have to make a clinical diagnosis and provide adequate management for their patients. Therefore a nosology and classification scheme has been chosen that is based on clinicogenetic and morphological features. Clinical diagnoses are then discussed with their molecular pathology. Part of the chapter addresses the management of congenital ichthyoses. Various tables provide an overview on clinical and/or pathophysiologically related groups of diseases. Finally, several cornification disorders are discussed that do not have a genetic basis, but are acquired or are of unknown aetiology (e.g. acquired ichthyoses/PPKs or perforating keratotic disorders).

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