Protean Cutaneous Manifestation Caused by ABCA12 variants: ErythrokeratodermiaVariabilis-like Ichthyosis and Unique Palmoplantar Keratoderma. ABCA12 is crucial for skin barrier function and traditionally linked to severe congenital ichthyosis, such as harlequin ichthyosis. However, its genotype-phenotype relationship may be more nuanced. Using whole-exome sequencing and Sanger sequencing, we identified four cases of mild ichthyosis with biallelic ABCA12 pathogenic variants. In addition to a milder phenotype, the palmoplantar keratoderma (PPK) in these cases had a distinct "mosaic-tile like" pattern. Two cases with missense variants in the N-terminus of ABCA12 also presented an annular ichthyosis pattern resembling erythrokeratodermiavariabilis et progressiva (EKVP). Our findings suggest
Erythrokeratodermiavariabilis et progressiva due to a novel mutation in GJB4. Erythrokeratodermiavariabilis et progressiva (EKVP) is a rare genodermatosis of clinical and genetic heterogeneity, characterized by the manifestations of localized or disseminated persistent hyperkeratotic plagues and stationary to migratory transient erythematous patches. The majority of EKVP cases display
Erythrokeratodermiavariabilis et progressiva allelic to oculo-dento-digital dysplasia. Erythrokeratodermiavariabilis et progressiva (EKVP) is a genodermatosis with clinical and genetic heterogeneity, most often transmitted in an autosomal dominant manner, caused by mutations in GJB3 and GJB4 genes encoding connexins (Cx)31 and 30.3, respectively. In this issue, Boyden et al. (2015) report
Dominant De Novo Mutations in GJA1 Cause ErythrokeratodermiaVariabilis Et Progressiva, without Features of Oculodentodigital Dysplasia. Genetic investigation of inherited skin disorders has informed the understanding of skin self-renewal, differentiation, and barrier function. Erythrokeratodermiavariabilis et progressiva (EKVP) is a rare, inherited skin disease that is characterized
Erythrokeratodermiavariabilis: Two case reports Erythrokeratodermiavariabilis (EKV) is a rare heterogeneous skin disorder. The classical EKV first described by Mendes da Costa is characterized by two types of skin lesions: (1) figurate hyperkeratotic plaques, and (2) transient erythematous areas. Herein, we report two patients presenting with erythematous and hyperkeratotic lesions that were
was remarkable. In patients investigated with genetic testing, a heterozygous pathogenic gene variant in the GJB4 (gap junction protein beta-4) gene was found positive for GJB4:c.35G>A (rsrs80358211). One patient also presented a synonymous variant in GJB3:c.357C>T (rs41310442). Variants in GJB4 are classically associated with Erythrokeratodermiavariabilis, but there is remarkable clinical heterogeneity. Our
Recessive mosaicism in ABCA12 causes blaschkoid congenital ichthyosiform erythroderma. We report the unique case of a 3-year-old girl who presented with linear erythematosquamous lesions following the lines of Blaschko, suggestive of genetic mosaicism in the skin. Single-candidate gene analyses were performed on DNA from blood, excluding Conradi-Hünermann-Happle syndrome, erythrokeratodermiavariabilis and a mosaic presentation of pityriasis rubra pilaris. With whole-exome sequencing (WES) on DNA from the patient's blood, a heterozygous missense mutation in exon 25 of the ABCA12 gene was detected. By manually scrutinizing the WES data, another low-percentage pathogenic frameshift mutation was found in the adjacent exon 26 of the same gene. This frameshift mutation was confirmed with Sanger
A rare missense mutation in GJB3 (Cx31G45E) is associated with a unique cellular phenotype resulting in necrotic cell death. Erythrokeratodermiavariabilis et progressiva (EKV-P) is caused by mutations in either the GJB3 (Cx31) or GJB4 genes (Cx30.3). We identified a rare GJB3 missense mutation, c.134G>A (p.G45E), in two unrelated patients and investigated its cellular characteristics. Expression
-17-induced targets of A20 show similar aberrant epidermal layer-specific transcriptional upregulation in keratinocytes from diseases as diverse as psoriasis, atopic dermatitis, and erythrokeratodermiavariabilis, suggesting a contributory role for epidermal inflammation in a broad spectrum of rashes.
indicated that it was unlikely that these 2 Japanese families shared a common ancestor. Although a missense mutation in ELOVL4 (c.504G>C, p.L168F) was recently reported to be associated with SCA with erythrokeratodermiavariabilis (SCA34) in a French-Canadian family, signs of erythrokeratodermiavariabilis were absent in our families. Combined with the results of the family with SCA34 reported previously , this report confirms that mutations in ELOVL4 can cause dominantly inherited neurodegeneration severely affecting the cerebellum and brainstem. We should be aware that the presence of multiple system atrophy-like features on magnetic resonance imaging scans, together with cerebellar and brainstem atrophy, suggests SCA34, even when erythrokeratodermiavariabilis is absent. The present study further broadened
in a significant proportion of families with SCA remains unexplained. In 1972, a French-Canadian family segregating a combination of SCA and erythrokeratodermiavariabilis (EKV) in an autosomal dominant fashion was described. To map and identify the causative gene in this large family with SCA and EKV using a combination of linkage analysis and whole-exome sequencing. A total of 32 individuals from the family
copyrighted by 3rd parties.Close encoded search term (Ainhum (Dactylolysis Spontanea)) and Ainhum (Dactylolysis Spontanea) What to Read Next on Medscape Related Conditions and Diseases * Ainhum * Vohwinkel Syndrome * Amniotic Band Syndrome (Streeter Dysplasia) * Acrokeratoelastoidosis * ErythrokeratodermiaVariabilis et Progressiva * Morphea Medscape Consult News & Perspective * Keratosis