Skin fragility, woolly hair syndrome with a desmoplakin mutation – a case from India

Peter, Dincy; Thomas, Meera; Wilson, Neil; Smith, Frances J.D.

doi:10.1111/ijd.14096

Cited by 2 publications

(3 citation statements)

References 8 publications

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“…However, SFWHS is often accompanied by increased skin fragility and recurrent blisters at birth. 41 , 42 TDOS is a rare autosomal-dominant ectodermal dysplasia, with woolly hair at birth, caused by variants in the DLX3 gene. However, as patients with TDOS age, their hair becomes thicker and straighter.…”

Section: Discussionmentioning

confidence: 99%

“…43,44 It is worth noting that neither SFWHS nor TDOS will present with cardiac disease, which can be as the basis for distinguishing them from Carvajal syndrome. [41][42][43][44] Our study has several limitations. First, apart from the proband and her parents, we have been unable to trace the genotypes of other family members.…”

Section: Case Presentationmentioning

confidence: 95%

“…34,37,38 Moreover, woolly hair is generally the first sign that patients with Carvajal syndrome may be detected at birth. However, woolly hair is not unique to Carvajal syndrome; it is also found in Naxos disease, mentioned above, and in other rare diseases such as Menkes disease (MD), 39,40 skin fragility/woolly hair syndrome (SFWHS), 41,42 and trichodento-osseus syndrome (TDOS). 43,44 MD occurs due to X-linked genetic variant in the ATP7A gene.…”

Section: Case Presentationmentioning

confidence: 99%

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A Novel Variant in the Desmoplakin Gene in One Case of the Rare Carvajal Syndrome with Dilated Cardiomyopathy: A Case Report and Literature Review

Zhao,

Bai,

et al. 2023

CCID

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Carvajal syndrome is a rare hereditary cardiocutaneous syndrome caused by the variants of the desmoplakin ( DSP ) gene. In this study, we report a patient of Carvajal syndrome with a novel homozygous missense variant of DSP gene. We diagnosed a 7-year-old female patient with Carvajal syndrome characterized by dilated cardiomyopathy, palmoplantar keratoderma, woolly hair, and dental dysplasia, who disclosed a novel homozygous missense variant c.4597C > T (p.Q1533X) in exon 6 of the DSP gene found for the first time. Both her parents were heterozygous for the identified nonsense variant c.4597C > T (p.Q1533X) in DSP gene but neither showed evidence of Carvajal syndrome, indicating that this novel variant causes the disease in an autosomal recessive manner. Genotypes of Carvajal syndrome are even broader than so far anticipated. When patients with dilated cardiomyopathy, palmoplantar keratoderma, woolly hair, and dental dysplasia are found in clinical practice, Carvajal syndrome should be highly suspected, and family gene sequencing should be actively carried out.

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Section: Discussionmentioning

confidence: 99%

Section: Case Presentationmentioning

confidence: 95%

Section: Case Presentationmentioning

confidence: 99%

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A Novel Variant in the Desmoplakin Gene in One Case of the Rare Carvajal Syndrome with Dilated Cardiomyopathy: A Case Report and Literature Review

Zhao,

Bai,

et al. 2023

CCID

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Two siblings with the skin fragility woolly hair syndrome

Aşkın

Özkoca

Uzunçakmak

et al. 2022

J of Cosmetic Dermatology

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The Skin Fragility and Woolly Hair Syndrome is a rare inherited disorder that presents with woolly hair, alopecia, and palmoplantar keratoderma. The lack of cardiovascular findings is an important feature in differentiating the disease from other genodermatoses that present with woolly hair and palmoplantar keratoderma. Here, we present a homozygous positive index case of the "Skin Fragility and Woolly Hair Syndrome" and her sister, whose parents were heterozygous positive for the same gene.A 4-year-old male patient applied to the outpatient clinic with the chief complaint of hair loss since birth. He had no other known diseases and was not using any regular drugs. His 2-year-old sister

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Skin fragility, woolly hair syndrome with a desmoplakin mutation – a case from India

Cited by 2 publications

References 8 publications

A Novel Variant in the Desmoplakin Gene in One Case of the Rare Carvajal Syndrome with Dilated Cardiomyopathy: A Case Report and Literature Review

A Novel Variant in the Desmoplakin Gene in One Case of the Rare Carvajal Syndrome with Dilated Cardiomyopathy: A Case Report and Literature Review

Two siblings with the skin fragility woolly hair syndrome

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