Identification of a founder mutation in
            <i>
              <scp>KRT</scp>
              14
            </i>
            associated with Naegeli–Franceschetti–Jadassohn syndrome

Ralser, Damian J.; Kumar, Sheetal; Borisov, Oleg; Sarig, Ofer; Richard, Gabriele; Wolf, Sabrina; Krawitz, Peter; Sprecher, Eli; Kreiß, Martina; Betz, Regina C.

doi:10.1111/bjd.19123

Cited by 2 publications

(2 citation statements)

References 8 publications

(33 reference statements)

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“…NFJS has been reported in different regions [ 81 , 83 , 84 , 85 ]. The histological features show that there are numerous [ 86 ]. However, the number and structure of the eccrine gland appear normal histologically.…”

Section: Naegeli–franceschetti–jadassohn Syndromementioning

confidence: 99%

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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Section: Naegeli–franceschetti–jadassohn Syndromementioning

confidence: 99%

Inherited Reticulate Pigmentary Disorders

Lin

Chou

Lee

et al. 2023

Genes

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“…Interestingly, K14 haploinsufficiency also causes two heritable diseases: Naegeli-Franceschetti-Jadassohn Syndrome and Dermatopathia pigmentosa reticularis, accompanied by the apoptotic death of basal KCs, hyperkeratosis, palmoplantar keratoderma, and other generalized manifestations. Mutations causing these syndromes are mainly localized in the N-terminal "head" domain [54][55][56].…”

Section: Mutations As the Causes Of Pathologymentioning

confidence: 99%

Keratins as an Inflammation Trigger Point in Epidermolysis Bullosa Simplex

Евтушенко

Beilin

Kosykh

et al. 2021

IJMS

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Epidermolysis bullosa simplex (EBS) is a group of inherited keratinopathies that, in most cases, arise due to mutations in keratins and lead to intraepidermal ruptures. The cellular pathology of most EBS subtypes is associated with the fragility of the intermediate filament network, cytolysis of the basal layer of the epidermis, or attenuation of hemidesmosomal/desmosomal components. Mutations in keratins 5/14 or in other genes that encode associated proteins induce structural disarrangements of different strengths depending on their locations in the genes. Keratin aggregates display impaired dynamics of assembly and diminished solubility and appear to be the trigger for endoplasmic reticulum (ER) stress upon being phosphorylated by MAPKs. Global changes in cellular signaling mainly occur in cases of severe dominant EBS mutations. The spectrum of changes initiated by phosphorylation includes the inhibition of proteasome degradation, TNF-α signaling activation, deregulated proliferation, abnormal cell migration, and impaired adherence of keratinocytes. ER stress also leads to the release of proinflammatory danger-associated molecular pattern (DAMP) molecules, which enhance avalanche-like inflammation. Many instances of positive feedback in the course of cellular stress and the development of sterile inflammation led to systemic chronic inflammation in EBS. This highlights the role of keratin in the maintenance of epidermal and immune homeostasis.

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

Cited by 2 publications

References 8 publications

Inherited Reticulate Pigmentary Disorders

Inherited Reticulate Pigmentary Disorders

Keratins as an Inflammation Trigger Point in Epidermolysis Bullosa Simplex

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