Autosomal Recessive Pachyonychia Congenita

Haber, Richard M.; Rose, Toby H.

doi:10.1001/archderm.1986.01660200091023

Cited by 55 publications

(3 citation statements)

References 14 publications

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“…There are three ca.ses reported of recessive inheritance (18). Recently the two major subtypes of PC (Jadassohn-Lewandowski/type 1 and Jackson-Sertoli/type It) were found by genetic linkage analysis to be caused by mutations in keratins 16 and 17. respectively.…”

Section: Pachyonychia Congenitamentioning

confidence: 99%

What Syndrome Is This?

Kim

1997

Pediatric Dermatology

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Section: Pachyonychia Congenitamentioning

confidence: 99%

What Syndrome Is This?

Kim

1997

Pediatric Dermatology

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“…It is now classified into two forms: generalized PSS (OMIM 270300) and acral PSS (OMIM 609796) 1 . PSS in association with leukonychia, acral punctate keratosis, cheilitis, and knuckle pads was described for the first time by Harber and Rose in 1986 2 . In 2015, Lin et al, described four individuals with PSS showing the same dermatological manifestations mentioned by Harber and Rose 3 .…”

Section: Introductionmentioning

confidence: 99%

PLACK syndrome is potentially treatable with intralipids

et al. 2021

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We describe an 11‐year‐old girl with PLACK Syndrome (peeling skin, leukonychia, acral punctate keratosis, cheilitis, and knuckle pads), who was found to have a novel homozygous variant in CAST, the pathogenicity of which was confirmed using blood‐derived RNA. There is no established treatment for PLACK syndrome. However, we demonstrate for the first time that this condition is associated with low levels of vitamin A and essential fatty acids, which prompted us to consider a potential treatment strategy. Indeed, we initiated this patient on intravenous lipid infusion (Vitalipid®; an emulsion of fat‐soluble vitamins and lipofundin‐MCT/LCT 20%) and the response was dramatic. Following the fourth monthly course of treatment, pruritis disappeared and the skin lesions showed remarkable objective improvement. PLACK syndrome is a very rare genodermatosis and only six families have been described to date with pathogenic CAST variants. This is the first report of an objective response to a therapeutic agent, which suggests that PLACK is a potentially treatable condition. The remarkable response we report and the relative safety of the intervention should prompt healthcare providers who care for PLACK syndrome patients to explore this as a potential treatment strategy in future studies.

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“…The term pachyonychia congenita (PC) was first used by Jadassohn and Lewandowsky to denote symmetrical thickening of all nails associated with palmoplantar hyperkeratosis, blistering of the feet, oral and sometimes laryngeal leukokeratosis, hoarseness, palmar and plantar hyperhidrosis, follicular keratosis, and hair abnormalities (1,2). Most often the inheritance is autosomal dominant, but an autosomal recessive pattern has also been reported, reflecting genetic heterogeneity (2,3). Clinically there are probably four different syndromes (4,5).…”

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confidence: 99%