1/26. An Indian case of keratoderma hereditarium mutilans (Vohwinkel's syndrome) associated with ichthyosiform dermatosis.Keratoderma hereditarium mutilans (KHM) or Vohwinkel's syndrome (VS) is usually inherited as an autosomal dominant disease, but a recessive type has occasionally been described. We report a 19-year-old male born to consanguineous parents, who presented with KHM associated with generalized ichthyosiform dermatosis. On examination, his generalized ichthyosiform dermatosis was accompanied by severe 'honey comb' like palmoplantar keratoderma and marked hyperhidrosis. Bilateral fifth toes showed complete constricting bands just distal to the metatarsophalangeal joints leading to pseudoainhum. The histopathologic examination of a biopsy from the sole showed hyperkeratosis, marked parakeratosis, hypergranulosis, acanthosis, and a few mononuclear cells in the papillary dermis, consistent with the diagnosis of KHM. Several hereditary disorders may show varying degrees of hyperkeratosis and constriction of digits; their differentiating features are discussed. This case is reported for its rarity and interesting associated findings.- - - - - - - - - - ranking = 1keywords = palm (Clic here for more details about this article) |
2/26. New-onset ichthyosis and diabetes in a 14-year-old.Diabetes has not been linked to acquired ichthyosis or ichthyosis vulgaris. We report a newly diagnosed diabetic 14-year-old girl with bilateral tibial and sacral ichthyosiform plaques and a hemoglobin A1c of 20.1%. The patient had no personal or family history of atopy or ichthyosis and lacked keratosis pilaris or hyperlinear palms. A biopsy specimen of an ichthyosiform plaque showed compact lamellar orthohyperkeratosis and hypogranulosis, histopathology consistent with either ichthyosis vulgaris or acquired ichthyosis. We speculate that our patient's new-onset diabetes induced acquired ichthyosis.- - - - - - - - - - ranking = 1keywords = palm (Clic here for more details about this article) |
3/26. A new variant of autosomal recessive exfoliative ichthyosis.We report unusual congenital ichthyosiform dermatosis in 5 of 12 children in two related families of unaffected, consanguineous Bedouin parents. It appeared shortly after birth as a fine peeling of nonerythematous skin on palms and soles. Gradually it evolved into prominent, well-demarcated areas of peeling skin in moist and traumatized regions. The cutaneous manifestations share features of ichthyosis bullosa of siemens (IBS) and peeling skin syndrome (PSS). Histologic examination revealed orthokeratosis, a thickened granular cell layer, and spongiosis without epidermolytic hyperkeratosis. On electron microscopy there was prominent intercellular edema and numerous aggregates of keratin filaments in basal keratinocytes. This combination of clinical, histologic, and ultrastructural features has not been previously reported in the heterogeneous group of congenital ichthyoses. We suggest that it represents a new variant of exfoliative ichthyosis.- - - - - - - - - - ranking = 1keywords = palm (Clic here for more details about this article) |
4/26. An autosomal recessive exfoliative ichthyosis with linkage to chromosome 12q13.A new variant of congenital exfoliative ichthyosis in two related Bedouin families is reported. The ichthyosis appeared shortly after birth as a fine peeling of nonerythematous skin on the palms and soles. The prominent well-demarcated areas of denuded skin in moist and traumatized regions resembled the 'mauserung' phenomenon of ichthyosis bullosa of siemens (IBS). Unlike in IBS, epidermolysis is absent on histological examination. Electron microscopy revealed a prominent intercellular oedema and numerous aggregates of keratin filaments in basal keratinocytes. Abnormal keratin (K) 1 expression was seen in the affected epidermis; however, all other keratins, including K2e, had a distribution comparable to that seen in normal controls. A maximum two-point lod score of 2.53 and multipoint lod score of 3.76 were obtained for marker D12S390, suggesting linkage to the type II keratin cluster on chromosome 12q13. Sequencing of both the K1 gene, the promotor and the 3' calcium regulatory region did not reveal a mutation. K2e and K5 genes, as well as the genes harboured within the minimal region, such as retinoic acid receptor gamma, sterol o-acyltransferase 2, integrin beta7 and insulin-like growth factor binding protein-6, were also excluded. This combination of clinical, histological, ultrastructural and genetic features has not been previously reported in other congenital exfoliative ichthyoses. We therefore suggest that it represents a new form of exfoliative ichthyosis.- - - - - - - - - - ranking = 1keywords = palm (Clic here for more details about this article) |
5/26. genetic heterogeneity of KID syndrome: identification of a Cx30 gene (GJB6) mutation in a patient with KID syndrome and congenital atrichia.connexins are integral membrane proteins forming aqueous gap junction channels that allow the diffusional exchange of ions and small metabolites between cells, thus coordinating metabolic activities in multicellular tissues. Dominant mutations in the Cx26 gene GJB2 have been shown to cause keratitis-ichthyosis-deafness (KID) syndrome, palmoplantar keratoderma associated with hearing loss, and Vohwinkel syndrome. Missense mutations in the closely related Cx30 gene GJB6 underlie Clouston syndrome (autosomal dominant hidrotic ectodermal dysplasia). We report a 6-y-old boy with phenotypic characteristics of KID syndrome as well as atrichia. In contrast to other KID syndrome patients, molecular analysis of the connexin gene GJB2 did not disclose a pathogenic mutation, although the patient was homozygous for a common polymorphism (V27I) in the coding sequence of Cx26. Nevertheless, screening of GJB6 revealed a heterozygous missense mutation (V37E) predicted to alter sequence and charge of the first transmembrane helix of Cx30, which was previously implicated in Clouston syndrome (Smith et al, 2002). The presence of a pathogenic Cx30 mutation and the lack of a pathologic molecular change in Cx26 in this patient, whose clinical features predominantly resemble KID syndrome, suggest genetic heterogeneity of KID syndrome and underscore that mutations in Cx30, similar to those in Cx26 or Cx31, can cause different phenotypes. Based on our results, connexin gene mutations should be considered in patients presenting with congenital sensorineural hearing loss and disorders of cornification, and screening of several connexin genes with known cutaneous phenotype, such as those for Cx26, Cx30, Cx30.3, and Cx31, may be required.- - - - - - - - - - ranking = 1keywords = palm (Clic here for more details about this article) |
6/26. A novel connexin 26 gene mutation associated with features of the keratitis-ichthyosis-deafness syndrome and the follicular occlusion triad.We report the case of a congenitally deaf white male with mild palmoplantar keratoderma, ichthyosiform scaling, follicular hyperkeratosis, and mild keratitis, features consistent with keratitis-ichthyosis-deafness syndrome. His major problem was severe, disfiguring, inflammatory dissecting folliculitis of the scalp, hidradenitis suppurativa, and cystic acne, features comprising the follicular occlusion triad. This unusual phenotype is associated with a novel heterozygous point mutation (C119T) in the gap junction beta2 gene that substitutes a valine for alanine at codon 40 (A40V) in the connexin 26 protein. Through xenopus oocyte expression studies, this mutant protein was shown to significantly disrupt the function of the specialized gap junctions connecting the cytoplasm of adjacent cells critical for tissue homeostasis. Mutations within the connexin 26 protein are associated with syndromes involving both sensorineural deafness and hyperkeratotic skin disorders. This is the first report of an association between a connexin 26 protein mutation, follicular hyperkeratosis of keratitis-ichthyosis-deafness syndrome, and severe follicular occlusion triad.- - - - - - - - - - ranking = 1keywords = palm (Clic here for more details about this article) |
7/26. Ichthyosis follicularis with congenital atrichia, nail dystrophy and palmoplantar keratoderma. Variant of IFAP syndrome or a new entity?A 23-year-old man was seen for dry, rough skin and alopecia present since birth. There was no history of impaired sweating, photophobia, or lacrimation. Examination revealed generalized cutaneous thorn-like projections with nonscarring alopecia, twenty-nail dystrophy, and palmoplantar keratoderma.- - - - - - - - - - ranking = 5keywords = palm (Clic here for more details about this article) |
8/26. Congenital ichthyosiform dermatosis with linear keratotic flexural papules and sclerosing palmoplantar keratoderma.Four members of a consanguineous family showed a congenital disorder characterized by an ichthyosiform dermatosis, sclerosing palmoplantar keratoderma, and multiple keratotic papules arranged in bands with a linear, cordlike distribution. This association seems to represent a distinct entity. The differential diagnosis is described.- - - - - - - - - - ranking = 5keywords = palm (Clic here for more details about this article) |
9/26. Episodic erythema gyratum repens with ichthyosis and palmoplantar hyperkeratosis without signs of internal malignancy.Two patients with typical lesions of erythema gyratum repens, peripheral ichthyosis, palmoplantar hyperkeratosis and nail changes are described. A non-specific erythrodermic eruption of several weeks' duration had preceded the typical lesions. No signs of internal malignancy were found and the typical gyrate lesions disappeared within some weeks with full restitution of all skin lesions within 6-8 months.- - - - - - - - - - ranking = 5keywords = palm (Clic here for more details about this article) |
10/26. Mutilating keratoderma--a case report.A 19 year old girl had mutilating palmoplantar keratoderma with generalised ichthyosiform dermatosis and linear verrucous plaques in popliteal fossae. Her mother had similar disorder.- - - - - - - - - - ranking = 1keywords = palm (Clic here for more details about this article) |
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