Punctate Palmoplantar Keratoderma: A Case Report of Type 1 (Buschke-Fischer-Brauer Disease)

Bukhari, Rahaf; Alhawsawi, Waseem; Radin, Aisha Ahmad; Jan, Hawazin D; Hawsawi, Khalid Al; Ahmadi, Marwan Al

doi:10.1159/000503337

Cited by 8 publications

(4 citation statements)

References 9 publications

(15 reference statements)

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“…Lesions typically start to develop in late childhood to early adulthood, with a reported age of onset ranging from 12 to 33 years old [ 6 ]. Male patients are more commonly affected [ 7 ]. It is a rare condition, with a prevalence estimated to be 1.17 per 100,000 persons [ 8 ].…”

Section: Discussionmentioning

confidence: 99%

Punctate Palmoplantar Keratoderma: A Case Report

Knowles¹,

Adams²,

Glass³

2023

Cureus

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Palmoplantar keratoderma (PPK) is an umbrella term for a group of heterogeneous disorders, acquired or inherited, that are characterized by hyperkeratosis of palmar and/or plantar surfaces. Punctate PPK (PPPK) has been shown to have an autosomal dominant pattern of inheritance. It is linked with two loci on chromosomes 8q24.13-8q24.21 and 15q22-15q24. In type 1 PPPK, also known as Buschke-Fischer-Brauer disease, loss-of-function mutations in either the AAGAB or the COL14A1 genes have been associated with the disorder. We report here the clinical and genetic features of a patient with findings most consistent with type 1 PPPK.

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Section: Discussionmentioning

confidence: 99%

Punctate Palmoplantar Keratoderma: A Case Report

Knowles¹,

Adams²,

Glass³

2023

Cureus

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“…Punctate palmoplantar keratoderma (PPK), also referred as Buschke-Fischer-Brauer (BFB) disease, is a very rare genetic disease characterized by punctate hyperkeratotic papules affecting the palmar and plantar skin (1). Its prevalence is estimated to be 1.17 per 100,000, and the clinical manifestations for this entity are observed between 10 and 45 years of age (2).…”

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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“…Palmoplantar keratodermas are a heterogeneous group of hereditary or acquired diseases, characterized by an excessive epidermal thickening of palmoplantar surfaces. [1][2][3][4][5] One of its rare hereditary forms is punctate palmoplantar keratoderma (Brauer-Buschke-Fischer syndrome), that follows a pattern of autosomal dominant inheritance with variable penetrance, and usually GAZETA MÉDICA Nº3 VOL. 8 • JULHO/SETEMBRO 2021 • 225 appears in late childhood to adulhood.…”

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confidence: 99%

“…This genodermatosis, although benign, tends to suffer clinical worsening over time, 3 and may be associated with the development of neoplasms (pancreas, colon, breast, kidney and lymphoma). 2,4 There is no efficient treatment, although some improvement may be achieved with the use of emollients and topical keratolytics. Other treatments such as psoralen plus ultraviolet A (PUVA), systemic or topical retinoids or liquid nitrogen have also been used, with limited success.…”

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confidence: 99%

Punctate Palmoplantar Keratoderma

Teixeira

Almeida

Carvalho

et al. 2021

Gaz Med

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A 5-year-old caucasian boy, born of non-consanguineous parents, was referred to the dermatology department due to palmar hiperlinearity and multiple 2-3 mm hyperkeratotic circular lesions in the soles (Fig. 1). The remaining physical examination was unremarkable. There was a family history of palmoplantar hyperkeratosis in the mother and maternal grandfather. To spare the child, a punch skin biopsy was taken from his mother. Pathology revealed an epidermis with irregular acanthosis and orthokeratotic hyperkeratosis, without other morphologic alterations (Fig. 2). Clinical aspect of the lesions associated with a positive family history and histologic findings allowed the diagnosis of punctate palmoplantar keratoderma. Satisfactory results were achieved with urea 20% cream and emollient applied to the soles. [...]

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Punctate Palmoplantar Keratoderma: A Case Report of Type 1 (Buschke-Fischer-Brauer Disease)

Cited by 8 publications

References 9 publications

Punctate Palmoplantar Keratoderma: A Case Report

Punctate Palmoplantar Keratoderma: A Case Report

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

Punctate Palmoplantar Keratoderma

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