Naegeli–Franceschetti–Jadassohn syndrome and dermatopathia pigmentosa reticularis: intrafamilial overlap of phenotypes in patients with the same
            <i>
              <scp>KRT</scp>
              14
            </i>
            frameshift variant

Burger, Bettina; Spoerri, I.; Imahorn, Elias; Wariwoda, H.; Leeb, Tosso; Itin, Peter

doi:10.1111/bjd.17997

Cited by 3 publications

(8 citation statements)

References 8 publications

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“…DPR is a rare autosomal dominant pigmentary dermatosis caused by mutations in the KRT14 gene located on chromosome 17 [ 1 , 3 ]. Since first described by Hauss and Oberste-Lehn in 1958 [ 3 , 4 ], DPR has been acknowledged as a very rare disorder with approximately 21 reported cases among the regions of America, Europe and Asia [ 5 ]. It is characterized by a triad of diffused reticulate hyperpigmentation, nonscarring alopecia that may include the scalp, eyebrows or axillary hair and onychodystrophy [ 6 ].…”

Section: Discussionmentioning

confidence: 99%

Dermatopathia pigmentosa reticularis with beard alopecia: first report from Syria

Elias

Bleidy

Hasan

et al. 2020

Oxford Medical Case Reports

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Dermatopathia pigmentosa reticularis (DPR) is a rare disorder with characteristic triad of generalized reticulate hyperpigmentation, noncicatricial alopecia and onychodystrophy. We report the first case from Syria with classical features of the triad along with hyperhidrosis and adermatoglyphia. Based on previous studies this case is distinguished by the location of alopecia on the beard which is not reported before and distinctive histopathological features were found on the biopsy.

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Section: Discussionmentioning

confidence: 99%

Dermatopathia pigmentosa reticularis with beard alopecia: first report from Syria

Elias

Bleidy

Hasan

et al. 2020

Oxford Medical Case Reports

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“…Dear Editor, Naegeli–Franceschetti–Jadassohn syndrome (NFJS; MIM 161000) is a rare, autosomal‐dominant ectodermal dysplasia . Affected individuals present with a heterogeneous spectrum of ectodermal abnormalities.…”

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confidence: 99%

“…1 However, there is a consensus that NFJS and DPR represent a continuous phenotypic spectrum of the same entity. [1][2][3] Here, we report the detection of a KRT14 mutation in a large kindred group with NJFS from Germany.…”

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confidence: 99%

“…The most distinctive features are absent dermatoglyphs, reticulate hyperpigmentation of the skin, palmoplantar keratoderma and decreased sweating. Other features may include abnormalities of the teeth, hair, nails and skin . Histopathologically, affected skin areas show mild hyperkeratosis, and in areas of hyperpigmentation an accumulation of melanosomes is observed in the upper part of the epidermis .…”

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confidence: 99%

“…Identification of a founder mutation in KRT14 associated with Naegeli-Franceschetti-Jadassohn syndrome DOI: 10.1111/bjd.19123 Dear Editor, Naegeli-Franceschetti-Jadassohn syndrome (NFJS; MIM 161000) is a rare, autosomal-dominant ectodermal dysplasia. 1 Affected individuals present with a heterogeneous spectrum of ectodermal abnormalities. The most distinctive features are absent dermatoglyphs, reticulate hyperpigmentation of the skin, palmoplantar keratoderma and decreased sweating.…”

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confidence: 99%

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Identification of a founder mutation in KRT 14 associated with Naegeli–Franceschetti–Jadassohn syndrome

et al. 2020

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Franceschetti-Jadassohn syndrome (NFJS; MIM 161000) is a rare, autosomal-dominant ectodermal dysplasia. 1 Affected individuals present with a heterogeneous spectrum of ectodermal abnormalities. The most distinctive features are absent dermatoglyphs, reticulate hyperpigmentation of the skin, palmoplantar keratoderma and decreased sweating. Other features may include abnormalities of the teeth, hair, nails and skin. 1

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Inherited Reticulate Pigmentary Disorders

Lin

Chou

Lee

et al. 2023

Genes

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Reticulate pigmentary disorders (RPDs) are a group of inherited and acquired skin conditions characterized by hyperpigmented and/or hypopigmented macules. Inherited RPDs include dyschromatosis symmetrica hereditaria (DSH), dyschromatosis universalis hereditaria (DUH), reticulate acropigmentation of Kitamura (RAK), Dowling-Degos disease (DDD), dyskeratosis congenita (DKC), Naegeli–Franceschetti–Jadassohn syndrome (NFJS), dermatopathia pigmentosa reticularis (DPR), and X-linked reticulate pigmentary disorder. Although reticulate pattern of pigmentation is a common characteristic of this spectrum of disorders, the distribution of pigmentation varies among these disorders, and there may be clinical manifestations beyond pigmentation. DSH, DUH, and RAK are mostly reported in East Asian ethnicities. DDD is more common in Caucasians, although it is also reported in Asian countries. Other RPDs show no racial predilection. This article reviews the clinical, histological, and genetic variations of inherited RPDs.

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Naegeli–Franceschetti–Jadassohn syndrome and dermatopathia pigmentosa reticularis: intrafamilial overlap of phenotypes in patients with the same KRT 14 frameshift variant

Cited by 3 publications

References 8 publications

Dermatopathia pigmentosa reticularis with beard alopecia: first report from Syria

Dermatopathia pigmentosa reticularis with beard alopecia: first report from Syria

Identification of a founder mutation in KRT 14 associated with Naegeli–Franceschetti–Jadassohn syndrome

Inherited Reticulate Pigmentary Disorders

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