Striate Palmoplantar Keratoderma Showing Transgrediens in a Patient Harbouring Heterozygous Nonsense Mutations in Both DSG1 and SERPINB7

Fukaura, Ryo; Takeichi, Takuya; Kojima, Daisuke; Kono, Michihiro; Sugiura, Kazumitsu; Suga, Yasushi; Akiyama, Masashi

doi:10.2340/00015555-2553

Cited by 7 publications

(5 citation statements)

References 10 publications

(12 reference statements)

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“…It may associate with plantar pain. A transgrediens phenotype has also been reported in two patients . Clinical features differ among patients, even within the same family .…”

Section: Isolated Palmoplantar Keratodermasmentioning

confidence: 80%

“…81 Digenic inheritance of DSG1 and SERPINB7 mutations was demonstrated in a patient presenting striate PPK and erythematous lesions on the dorsal aspect of fingers. 80 Autosomal dominant DSG1 mutations have been also reported in focal PPK in a Libyan family and diffuse PPK in a Jewish Yemenite family, 82,83 a fact which illustrates that different patterns of palmoplantar involvement can result from mutations in the same gene. Noteworthy, biallelic DSG1 mutations have been recently identified in the severe SAM syndrome, characterized by PPK, erythroderma, multiple allergies and metabolic wasting, with heterozygous mutation carriers only presenting hyperkeratotic palmoplantar lesions.…”

Section: Other Patterns Of Palmoplantar Keratodermasmentioning

confidence: 98%

“…A transgrediens phenotype has also been reported in two patients. 79,80 Clinical features differ among patients, even within the same family. 81 Digenic inheritance of DSG1 and SERPINB7 mutations was demonstrated in a patient presenting striate PPK and erythematous lesions on the dorsal aspect of fingers.…”

Section: Other Patterns Of Palmoplantar Keratodermasmentioning

confidence: 99%

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Hereditary palmoplantar keratodermas. Part I. Non‐syndromic palmoplantar keratodermas: classification, clinical and genetic features

Guerra

Castori

Didona

et al. 2018

Acad Dermatol Venereol

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The term palmoplantar keratoderma (PPK) indicates any form of persistent thickening of the epidermis of palms and soles and includes genetic as well as acquired conditions. We review the nosology of hereditary PPKs that comprise an increasing number of entities with different prognoses, and a multitude of associated cutaneous and extracutaneous features. On the basis of the phenotypic consequences of the underlying genetic defect, hereditary PPKs may be divided into the following: (i) non-syndromic, isolated PPKs, which are characterized by a unique or predominant palmoplantar involvement; (ii) non-syndromic PPKs with additional distinctive cutaneous and adnexal manifestations, here named complex PPKs; (iii) syndromic PPKs, in which PPK is associated with specific extracutaneous manifestations. To date, the diagnosis of the different hereditary PPKs is based mainly on clinical history and features combined with histopathological findings. In recent years, the exponentially increasing use of next-generation sequencing technologies has led to the identification of several novel disease genes, and thus substantially contributed to elucidate the molecular basis of such a heterogeneous group of disorders. Here, we focus on hereditary non-syndromic isolated and complex PPKs. Syndromic PPKs are reviewed in the second part of this 2-part article, where other well-defined genetic diseases, which may present PPK among their phenotypic manifestations, are also listed and diagnostic and therapeutic approaches for PPKs are summarized.

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“…It may associate with plantar pain. A transgrediens phenotype has also been reported in two patients . Clinical features differ among patients, even within the same family .…”

Section: Isolated Palmoplantar Keratodermasmentioning

confidence: 80%

Section: Other Patterns Of Palmoplantar Keratodermasmentioning

confidence: 98%

See 1 more Smart Citation

Hereditary palmoplantar keratodermas. Part I. Non‐syndromic palmoplantar keratodermas: classification, clinical and genetic features

Guerra

Castori

Didona

et al. 2018

Acad Dermatol Venereol

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“…5,6 Interestingly, our patient presented with classic NPPK without the severe mutilating PPK associated with TRPV3 mutations or the striate PPK most commonly seen in DSG1 mutations. 5,7 Finally, the CFTR gene was normal despite significant wrinkling of palms upon water exposure. A larger-scale analysis is needed to understand NPPK disease penetrance in adult SER-PINB7 mutation carriers and the spontaneous clinical remission observed.…”

Section: Discussionmentioning

confidence: 77%

“…5,6 Both patients exhibited characteristic findings of NPPK which are not associated with either DSG1 or KRT9 mutation, including transgrediens and white spongy change with water exposure. 5,6 Interestingly, our patient presented with classic NPPK without the severe mutilating PPK associated with TRPV3 mutations or the striate PPK most commonly seen in DSG1 mutations. 5,7 Finally, the CFTR gene was normal despite significant wrinkling of palms upon water exposure.…”

Section: Discussionmentioning

confidence: 95%

Spontaneous clinical remission of Nagashima‐type palmoplantar keratoderma in a patient of Korean descent with a heterozygous SERPINB7 mutation

Thakker,

Owusu‐Agyei,

Marchalik

et al. 2024

Pediatric Dermatology

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Nagashima‐type palmoplantar keratoderma (NPPK) is an autosomal recessive form of diffuse palmoplantar keratoderma (PPK) characterized by thickening and redness of palms and/or soles. In this report, we describe a female patient of Korean descent who had clinical remission of her adult‐onset NPPK. To our knowledge, she is the first reported heterozygous SERBINB7 mutation carrier to present with classic NPPK who achieved spontaneous clinical remission.

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La génétique des kératodermies palmoplantaires isolées

Sperelakis-Beedham

Lopez

Girodon

et al. 2022

Annales de Dermatologie et de Vénéréologie - FMC

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Striate Palmoplantar Keratoderma Showing Transgrediens in a Patient Harbouring Heterozygous Nonsense Mutations in Both DSG1 and SERPINB7

Cited by 7 publications

References 10 publications

Hereditary palmoplantar keratodermas. Part I. Non‐syndromic palmoplantar keratodermas: classification, clinical and genetic features

Hereditary palmoplantar keratodermas. Part I. Non‐syndromic palmoplantar keratodermas: classification, clinical and genetic features

Spontaneous clinical remission of Nagashima‐type palmoplantar keratoderma in a patient of Korean descent with a heterozygous SERPINB7 mutation

La génétique des kératodermies palmoplantaires isolées

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