Image Gallery: Acrodermatitis enteropathica: recurrent flares in adulthood

Murray, Gregg R.; Hellen, Rebecca; Ralph, James; O'Kane, Marina

doi:10.1111/bjd.18208

Cited by 2 publications

(2 citation statements)

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“…There was no blistering. A diagnosis of acrodermatitis enteropathica [ 22] was initially considered, but zinc levels were normal. The rash fluctuated in severity, with flares lasting about a week before subsiding to leave yellow‐brown verrucous plaques.…”

Section: Resultsmentioning

confidence: 99%

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A heterozygous mutation in GJB2 (Cx26F142L) associated with deafness and recurrent skin rashes results in connexin assembly deficiencies

Albuloushi

Lovgren

Steel

et al. 2020

Experimental Dermatology

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Mutations in GJB2 encoding Connexin 26 (CX26) are associated with hearing loss and hyperproliferative skin disorders of differing severity including keratitis‐ichthyosis‐deafness (KID) and Vohwinkel syndrome. A 6‐year‐old Caucasian girl who presented with recurrent skin rashes and sensorineural hearing loss harboured a heterozygous point mutation in GJB2 (c.424T > C; p.F142L). To characterize the impact of CX26F142L on cellular events. Plasmids CX26WT, CX26F142L, CX26G12R (KID) or CX26D66H (Vohwinkel) were transfected into HeLa cells expressing Cx26 or Cx43 or into HaCaT cells, a model keratinocyte cell line. Confocal microscopy determined protein localization. MTT assays assessed cell viability in the presence or absence of carbenoxolone, a connexin‐channel blocker. Co‐immunoprecipitation/Western blot analysis determined Cx43:Cx26 interactions. Quantitative real‐time polymerase chain reaction assessed changes in gene expression of ER stress markers. Dye uptake assays determined Connexin‐channel functionality. F142L and G12R were restricted to perinuclear areas. Collapse of the microtubule network, rescued by co‐treatment with paclitaxel, occurred. ER stress was not involved. Cell viability was reduced in cells expressing F142L and G12R but not D66H. Unlike G12R that forms “leaky” hemichannels, F142L had restricted permeability. Cell viability of F142L and G12R transfected cells was greater in HeLa cells expressing Cx43 than in native Cx‐free HeLa cells. Co‐immunoprecipitation suggested a possible interaction between Cx43 and the three mutations. Expression of CX26F142L and G12R results in microtubule collapse, rescued by interaction with Cx43. The GJB2 mutations interacted with Cx43 suggesting that unique Cx43:Cx26 channels are central to the diverse phenotype of CX26 skin‐related channelopathies.

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Section: Resultsmentioning

confidence: 99%

“…There was no blistering. A diagnosis of acrodermatitis enteropathica [22] was initially considered, but zinc levels were normal. Other noted features were mild angular cheilitis and poor primary dentition requiring dental extractions ( Figure 1C).…”

Section: Discussionmentioning

confidence: 99%

A heterozygous mutation in GJB2 (Cx26F142L) associated with deafness and recurrent skin rashes results in connexin assembly deficiencies

Albuloushi

Lovgren

Steel

et al. 2020

Experimental Dermatology

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Acquired and Inherited Zinc Deficiency-Related Diseases in Children: A Case Series and a Narrative Review

Bellini,

Bustaffa,

Tubino

et al. 2024

Pediatric Reports

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Zinc deficiency is a significant global health concern among children, manifesting in various acquired and inherited conditions. This comprehensive overview of acquired and inherited zinc deficiency-related diseases in children aimed to explore the clinical presentations, diagnostic challenges, and management strategies associated with these conditions. This case series elucidates the diverse clinical manifestations of zinc deficiency in pediatric patients, ranging from dermatitis and growth retardation to immune dysregulation and neurological abnormalities, and discusses the underlying genetic mechanisms, clinical phenotypes, and therapeutic interventions. The complexity of zinc deficiency-related diseases in children underscores the need for a multidisciplinary approach involving pediatricians, dermatologists, geneticists, and nutritionists to optimize patient care and outcomes.

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Image Gallery: Acrodermatitis enteropathica: recurrent flares in adulthood

Cited by 2 publications

References 0 publications

A heterozygous mutation in GJB2 (Cx26F142L) associated with deafness and recurrent skin rashes results in connexin assembly deficiencies

A heterozygous mutation in GJB2 (Cx26F142L) associated with deafness and recurrent skin rashes results in connexin assembly deficiencies

Acquired and Inherited Zinc Deficiency-Related Diseases in Children: A Case Series and a Narrative Review

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