Epidermolysis Bullosa Simplex with Mottled Pigmentation Due to a Rare Keratin 5 Mutation: Cutaneous Findings in Infancy

Geller, Lauren; Kristal, Leonard; Morel, Kimberly D.

doi:10.1111/pde.12206

Cited by 5 publications

(7 citation statements)

References 5 publications

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“…1,2 However, the identical mutation has been reported to cause another rare subtype of EBS, EBS with mottled pigmentation (EBS-MP, MIM 131960). [3][4][5] Here, we present two familial cases of EBS showing migratory circinate erythema in infancy but mottled pigmentation in the later stages of the disease. We identified heterozygous frameshift mutations in the V2 domain of KRT5, a novel c.1638_1641del-CATG mutation, and a recurrent c.1649delG mutation.…”

mentioning

confidence: 91%

“…2 At dermoscopy, a multicomponent pattern characterized by irregular and poorly defined borders, a complete disruption of the brown network, a prevalence of bluish dots (peppering) and globules, separated by shiny white streaks was evidenced. 3,4 (a) (b) (c) Figure 1 A 26-year-old male presented with a bluish pigmented papule of 0.6 9 0.4 cm in diameter on his upper trunk (a,c). On dermoscopy, the lesion revealed a multicomponent pattern characterized by irregular and poorly defined borders, a complete disruption of the brown network, a prevalence of peppering (red arrows) and globules (yellow star), separated by shiny white streaks (green arrows) and multifocal areas of hypopigmentation corresponding to follicular openings (b).…”

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confidence: 99%

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Distinct phenotype of epidermolysis bullosa simplex with infantile migratory circinate erythema due to frameshift mutations in the V2 domain of KRT5

Kumagai

Umegaki‐Arao

Sasaki

et al. 2016

Acad Dermatol Venereol

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confidence: 91%

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confidence: 99%

Distinct phenotype of epidermolysis bullosa simplex with infantile migratory circinate erythema due to frameshift mutations in the V2 domain of KRT5

Kumagai

Umegaki‐Arao

Sasaki

et al. 2016

Acad Dermatol Venereol

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“…Therefore, the genes in class (1) or (2) may play important roles in shaping the "two-end-black" phenotype. We also found these genes that may be implicated in pigmentation were down-regulated in white skin, such as the keratin (KRT) gene [51][52][53].…”

Section: Functional Enrichment Analysis Of De Mrnamentioning

confidence: 80%

Transcriptional Differences of Coding and Non-Coding Genes Related to the Absence of Melanocyte in Skins of Bama Pig

Jin

Zhao

et al. 2019

Genes

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Skin is the body’s largest organ, and the main function of skin is to protect underlying organs from possible external damage. Melanocytes play an important role in skin pigmentation. The Bama pig has a “two-end-black” phenotype with different coat colors across skin regions, e.g., white skin (without melanocytes) and black skin (with melanocytes), which could be a model to investigate skin-related disorders, specifically loss of melanocytes. Here, we generated expression profiles of mRNAs and long noncoding RNAs in Bama pig skins with different coat colors. In total, 14,900 mRNAs and 7549 lncRNAs were expressed. Overall, 2338 mRNAs/113 lncRNAs with FDR-adjusted p-value ≤ 0.05 were considered to be differentially expressed (DE) mRNAs/lncRNAs, with 1305 down-regulated mRNAs and 1033 up-regulated mRNAs in white skin with|log2(fold change)| > 1. The genes down-regulated in white skin were associated with pigmentation, melanocyte–keratinocyte interaction, and keratin, while up-regulated ones were mainly associated with cellular energy metabolisms. Furthermore, those DE lncRNAs were predicted to be implicated in pigmentation, keratin synthesis and cellular energy metabolism. In general, this study provides insight into the transcriptional difference involved in melanocyte-loss-induced keratinocyte changes and promotes the Bama pig as a biomedical model in skin research.

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“…These proteins are essential to sustain normal epidermal function and play a role in signaling (Porter and Lane 2003). Mutations of a member of the KRT family resulted in an unusual skin pigmentation in humans (Irvine et al 1997; Horiguchi et al 2005; Pascucci et al 2006; Geller et al 2013). Therefore, these DE keratins might participate in the signaling transduction involved in melanin synthesis in melanocytes or the transportation of melanin from melanocytes to keratinocytes through cellular interactions (Nakazawa et al 1995; Seiberg 2001; Joshi et al 2007).…”

Section: Discussionmentioning

confidence: 99%

Comparative transcriptome analysis by deep RNA sequencing at early stage of skin pigmentation in goats (Capra hircus)

Wang

Jiang

et al. 2016

Preprint

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Although specific genes have been found to be associated with skin pigmentation, the global gene expression profile for the early stage of skin pigmentation and development in mammals is still not well understood. Here we reported a rare natural group of goat (Youzhou dark goat) featuring the dark skin of body including the visible mucous membranes, which may be an exclusive kind of large mammalian species with this special phenotype so far. In the present study, we characterized the 100-day-old fetal skin transcriptome in hyperpigmented (dark-skinned) and wild-type (white-skinned) goats using deep RNA-sequencing. A total of 923,013,870 raw reads from 6 libraries were obtained, and a large number of alternative splicing events were identified in the transcriptome of fetal skin, including the well-known melanogenic genes ASIP, TYRP1, and DCT, which were differentially expressed in the skin between the dark-skinned and white-skinned goats. Further analysis demonstrated that differential genes including ASIP, TYRP1, DCT, WNT2, RAB27A, FZD4, and CREB3L1 were significantly overrepresented in the melanogenesis pathway and several biological process associated with pigmentation. On the other hand, we identified 1616 novel transcripts in goat skin based on the characteristics of their expression level and gene composition. These novel transcripts may represent two distinct groups of nucleic acid molecules. Our findings contribute to the understanding of the characteristics of global gene expression at early stages of skin pigmentation and development, as well as describe an animal model for human diseases associated with pigmentation.

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Epidermolysis Bullosa Simplex with Mottled Pigmentation Due to a Rare Keratin 5 Mutation: Cutaneous Findings in Infancy

Cited by 5 publications

References 5 publications

Distinct phenotype of epidermolysis bullosa simplex with infantile migratory circinate erythema due to frameshift mutations in the V2 domain of KRT5

Distinct phenotype of epidermolysis bullosa simplex with infantile migratory circinate erythema due to frameshift mutations in the V2 domain of KRT5

Transcriptional Differences of Coding and Non-Coding Genes Related to the Absence of Melanocyte in Skins of Bama Pig

Comparative transcriptome analysis by deep RNA sequencing at early stage of skin pigmentation in goats (Capra hircus)

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