A family with leukonychia totalis

Balighi, Kamran; Moeineddin, Fatemeh; Lajevardi, Vahideh; Rajaee, Ahmadreza

doi:10.4103/0019-5154.60365

Cited by 4 publications

(3 citation statements)

References 6 publications

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“…As for cutaneous manifestation, generalized spiky hyperkeratotic skin is characteristic of HID and KID, while hyperkeratosis is mostly limited to the fingers, palms, and soles in PPK with deafness, Vohwinkel syndrome, and Bart-Pumphrey syndrome [ 139 ]. Leukonychia and thickening of the nails have also been reported in cases with Bart-Pumphrey syndrome [ 31 , 32 , 140 , 141 , 142 ].…”

Section: Various Types Of Hhi Present With Cutaneous Abnormalitiesmentioning

confidence: 99%

Hereditary Hearing Impairment with Cutaneous Abnormalities

Lee

Lin

Chen

et al. 2020

Genes

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Syndromic hereditary hearing impairment (HHI) is a clinically and etiologically diverse condition that has a profound influence on affected individuals and their families. As cutaneous findings are more apparent than hearing-related symptoms to clinicians and, more importantly, to caregivers of affected infants and young individuals, establishing a correlation map of skin manifestations and their underlying genetic causes is key to early identification and diagnosis of syndromic HHI. In this article, we performed a comprehensive PubMed database search on syndromic HHI with cutaneous abnormalities, and reviewed a total of 260 relevant publications. Our in-depth analyses revealed that the cutaneous manifestations associated with HHI could be classified into three categories: pigment, hyperkeratosis/nail, and connective tissue disorders, with each category involving distinct molecular pathogenesis mechanisms. This outline could help clinicians and researchers build a clear atlas regarding the phenotypic features and pathogenetic mechanisms of syndromic HHI with cutaneous abnormalities, and facilitate clinical and molecular diagnoses of these conditions.

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Section: Various Types Of Hhi Present With Cutaneous Abnormalitiesmentioning

confidence: 99%

Hereditary Hearing Impairment with Cutaneous Abnormalities

Lee

Lin

Chen

et al. 2020

Genes

View full text Add to dashboard Cite

show abstract

“…Leukonychia of BPS may involve the total nail, or it may occur in patches. 3,4 Palmoplantar keratoderma that may be seen in BPS may be diffuse and striate with a grainy surface. It is particularly evident along the skin creases.…”

mentioning

confidence: 99%

“…Rheumatoid nodules and erythema elevatum diutinum should also be excluded. Leukonychia of BPS may involve the total nail, or it may occur in patches . Palmoplantar keratoderma that may be seen in BPS may be diffuse and striate with a grainy surface.…”

mentioning

confidence: 99%