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The Journal of Investigative Dermatology Jan 2019
Topics: Biopsy; DNA; DNA Mutational Analysis; Dental Enamel; Female; Humans; Imaging, Three-Dimensional; Immunohistochemistry; Keratin-16; Microscopy, Electron, Scanning; Mutation; Pachyonychia Congenita; Skin; X-Ray Microtomography; Young Adult
PubMed: 30009827
DOI: 10.1016/j.jid.2018.07.005 -
Clinical and Experimental Dermatology Dec 2016Congenital abnormalities of the nail are rare conditions that are most frequently associated with congenital ectodermal syndromes involving several of the epidermal... (Review)
Review
Congenital abnormalities of the nail are rare conditions that are most frequently associated with congenital ectodermal syndromes involving several of the epidermal appendages including the skin, teeth, hair and nails. Isolated recessive nail dysplasia (IRND) is much rarer but has recently been recognized as a condition resulting in 20-nail dystrophy in the absence of other cutaneous or extracutaneous findings. A few case reports have identified mutations in the Frizzled 6 (FZD6) gene in families presenting with abnormal nails consistent with IRND. These reports have highlighted the role of Wnt-FZD signalling in the process of nail formation. We report three families presenting with features of IRND, in whom we identified mutations in FZD6, including one previously unreported mutation.
Topics: Child, Preschool; Female; Frizzled Receptors; Humans; Male; Mutation; Nail Diseases; Nails, Malformed
PubMed: 27786367
DOI: 10.1111/ced.12934 -
Clinical, Cosmetic and Investigational... 2024Pachyonychia congenita (PC) is a group of rare hereditary disorders, characterised by hypertrophic nails and palmoplantar keratoderma (PPK), particularly localised to...
Pachyonychia congenita (PC) is a group of rare hereditary disorders, characterised by hypertrophic nails and palmoplantar keratoderma (PPK), particularly localised to the pressure areas of the feet. At a molecular level, it is caused by mutations in genes encoding KRT6A, KRT6B, KRT6C, KRT16, or KRT17. To identify the underlying gene mutation in a Chinese family with PC presenting with disabling palmoplantar keratoderma and subsequent associated acral melanoma. Genomic DNA was extracted from peripheral blood samples of three available individuals in the Chinese family, which included the patient and his two unaffected sisters. The index patient presented with severe palmoplantar keratoderma as well as a newly diagnosed acral malignant melanoma (MM). Whole-exome sequencing (WES) was carried out with amplification of exon 1 of KRT16 by polymerase chain reaction (PCR). PCR products were then sequenced to identify potential mutations. We identified the proline substitution mutation p.Arg127Pro (c.380G>C) in our patient's 1A domain of KRT16. The same mutation was not found in his sisters or unrelated healthy controls. The mutation (p.Arg127Pro (c.380G>C)) in KRT16 has been reported in Dutch patients with PC. However, it is the first such report of a patient with a PC of Chinese origin. In addition, the acral MM occurred under the background of genetic PPK caused by KRT16 mutation in this patient.
PubMed: 38770089
DOI: 10.2147/CCID.S462273 -
Journal of Cutaneous Medicine and... 2021Hidradenitis suppurativa and steatocystoma multiplex may coexist in the same patient. The overlap of these 2 conditions could be suggestive of an unrecognized defect in...
Hidradenitis suppurativa and steatocystoma multiplex may coexist in the same patient. The overlap of these 2 conditions could be suggestive of an unrecognized defect in follicular proliferation mutual in the pathogenesis of both conditions. Here we present 5 patients with both hidradenitis suppurativa and steatocystoma multiplex. Recognizing the overlap between these 2 conditions is important for accurate diagnosis, management, and identification of potential surgical candidates, as well as future basic science research.
Topics: Adult; Diagnosis, Differential; Female; Hidradenitis Suppurativa; Humans; Male; Steatocystoma Multiplex
PubMed: 33908804
DOI: 10.1177/12034754211010145 -
The British Journal of Dermatology May 2017The inherited palmoplantar keratodermas (PPKs) are a heterogeneous group of genodermatoses, characterized by thickening of the epidermis of the palms and soles. No...
The inherited palmoplantar keratodermas (PPKs) are a heterogeneous group of genodermatoses, characterized by thickening of the epidermis of the palms and soles. No classification system satisfactorily unites clinical presentation, pathology and molecular pathogenesis. There are four patterns of hyperkeratosis - striate, focal, diffuse and punctate. Mutations in the desmoglein 1 gene (DSG1), a transmembrane glycoprotein, have been reported primarily in striate, but also in focal and diffuse PPKs. We report seven unrelated pedigrees with dominantly inherited PPK owing to mutations in the DSG1 gene, with marked phenotypic variation. Genomic DNA from each family was isolated, and individual exons amplified by polymerase chain reaction. Sanger sequencing was employed to identify mutations. Mutation analysis identified novel mutations in five families (p.Tyr126Hisfs*2, p.Ser521Tyrfs*2, p.Trp3*, p.Asp591Phefs*9 and p.Met249Ilefs*6) with striate palmar involvement and varying focal or diffuse plantar disease, and the recurrent mutation c.76C>T, p.Arg26*, in two families with variable PPK patterns. We report one recurrent and five novel DSG1 mutations, causing varying patterns of PPK, highlighting the clinical heterogeneity arising from mutations in this gene.
Topics: Africa; Americas; Desmoglein 1; Europe; Female; Genetic Testing; Humans; Keratoderma, Palmoplantar; Male; Mutation; Pedigree; Phenotype; Young Adult
PubMed: 27534273
DOI: 10.1111/bjd.14973 -
Indian Journal of Dermatology,... 2017
Topics: Adolescent; Female; Humans; India; Keratin-6; Mutation; Pachyonychia Congenita; Pedigree
PubMed: 27852996
DOI: 10.4103/0378-6323.193620 -
Anais Brasileiros de Dermatologia 2016Steatocystoma multiplex is a rare genetic disorder characterized by the presence of hamartomatous malformations at the junction of the pilosebaceous duct. It consists of...
Steatocystoma multiplex is a rare genetic disorder characterized by the presence of hamartomatous malformations at the junction of the pilosebaceous duct. It consists of encapsulated cystic lesions in the dermis, with adjacent sebaceous gland. When associated with inflammation, resembling hidradenitis, it is called steatocystoma multiplex suppurativa, a condition rarely reported. This is the first case of steatocystoma multiplex suppurativa reported in the Brazilian literature. Female patient, 23 years old, with papular and nodular cystic lesions that started in the armpits and groin, later spreading to the trunk, lower limbs, anticubital fossa, face and scalp. The presence of papular-nodular lesions associated with disseminated hidradenitis-like lesions in flexural areas and the histopathological diagnosis of steatocystoma defined the diagnosis of steatocystoma multiplex suppurativa.
Topics: Biopsy; Diagnosis, Differential; Epidermal Cyst; Female; Hidradenitis Suppurativa; Humans; Rare Diseases; Sebaceous Glands; Steatocystoma Multiplex; Suppuration; Young Adult
PubMed: 28300893
DOI: 10.1590/abd1806-4841.20164539 -
The British Journal of Dermatology Sep 2018
Topics: Adult; DNA Mutational Analysis; Desmoglein 1; Female; Humans; Keratoderma, Palmoplantar; Mutation, Missense; Skin
PubMed: 29315490
DOI: 10.1111/bjd.16320 -
Indian Journal of Dermatology,... 2015Pachyonychia congenita (PC) is a rare genetic disorder which is inherited in an autosomal dominant pattern. We report a sporadic novel H1 mutation in the KRT6A gene (c....
UNLABELLED
Pachyonychia congenita (PC) is a rare genetic disorder which is inherited in an autosomal dominant pattern. We report a sporadic novel H1 mutation in the KRT6A gene (c. 428G>A/p.Ser143Asn) in a Chinese infant patient. The mutation is concurrent with a single-nucleotide polymorphism and resulted in a serine for asparagine substitution in H1 subdomain of KRT6A chain next to the rod domain. The infant showed the classic symptoms of pachyonychia congenita.
CONCLUSION
The heterozygous missense mutation c. 428G > A/p.Ser143Asn in KRT6A exon 1 may cause severe disease.
Topics: Female; Humans; Infant; Keratin-6; Mutation, Missense; Pachyonychia Congenita; Pedigree
PubMed: 26087092
DOI: 10.4103/0378-6323.158651 -
JAAD International Mar 2024
PubMed: 38274397
DOI: 10.1016/j.jdin.2023.11.002