Somatic Mosaicism for a "Lethal" GJB2 Mutation Results in a Patterned Form of Spiny Hyperkeratosis without Eccrine Involvement.

Background: Spiny hyperkeratosis refers to a rare clinical phenotype characterized by nonfollicular keratotic projections and sometimes associated with other acquired and inherited conditions. We describe a case of congenital patterned spiny hyperkeratosis.

Methods: To identify the cause of this disorder, we used a combination of whole exome sequencing, direct sequencing and TaqMan assay.

A novel splice-site mutation in the AAGAB gene segregates with hereditary punctate palmoplantar keratoderma and congenital dysplasia of the hip in a large family.

Background: Palmoplantar keratoderma punctata (PPKP) is a heterogeneous group of disorders characterized by hyperkeratotic papules occurring over the palms and soles during adolescence. PPKP type 1, also known as PPKP Buschke-Fischer-Brauer type, was recently found to result from mutations in the AAGAB gene, encoding the p34 protein. PPKP type 1 is usually not associated with extracutaneous features.

Erythrokeratoderma variabilis caused by a recessive mutation in GJB3.

Background: Erythrokeratoderma variabilis (EKV) is a rare disorder of cornification usually associated with dominant mutations in the genes GJB3 and GJB4, which code for connexin (Cx)31 and Cx30.3, respectively, and contribute to the formation of functional gap junctions in the epidermis.

Aim: To identify the molecular basis of recessive EKV in a consanguineous family of Middle Eastern origin.

Unilateral spiny hyperkeratosis: case report and review of the literature.

We describe the first case of unilateral spiny hyperkeratosis (SH) of the left hand, review the literature and discuss possible patho- mechanisms. SH can be sporadic or familial, often appearing in healthy individuals. However, there is an association with various malignancies in a significant number of the sporadic cases.

Cutaneous side effects of alternative therapy.

Unconventional, complementary, and alternative therapies have become very popular forms of therapy and the predictions are that their popularity will continue to soar in the future. They are often perceived as being "natural" and therefore harmless, devoid of side effects, and without unpleasant consequences. The fact is that although their risks might be less than those of conventional drugs, side effects of this therapy can and do occur and must be considered as being a relevant factor in using such methods.

Erythrokeratodermia variabilis with erythema gyratum repens-like lesions.

A large pedigree with erythrokeratodermia variabilis (EKV) and erythema gyratum repens-like lesions is described. Clinical, laboratory, and histologic findings of this family are presented. The differential diagnoses of the following dermatoses with an erythematous and a hyperkeratotic component are discussed: erythrokeratodermia variabilis (Mendes da Costa), progressive symmetric erythrokeratoderma (Gottron), loricrin keratoderma, erythrokeratoderma en cocardes (Degos), Netherton syndrome, keratitis-ichthyosis-deafness (KID) syndrome, erythrokeratolysis hiemalis (Oudtshoorn disease), and nonbullous congenital ichthyosiform erythroderma.

A mutation in GJB3 is associated with recessive erythrokeratodermia variabilis (EKV) and leads to defective trafficking of the connexin 31 protein.

Erythrokeratodermia variabilis (EKV) is a skin disorder characterized by variable (transient) erythemas and fixed keratosis. The disorder maps to chromosome 1p34-35, a location that contains the GJB3 gene encoding the gap junction protein connexin 31. Until now, only heterozygote mutations in the form of dominant inheritance have been described in this gene associated with EKV.

Clinical significance of markedly elevated serum creatine kinase levels in patients with acne on isotretinoin.

Muscle-related complaints and high creatine kinase (CK) blood levels have been reported in 16-51% of patients with acne treated with isotretinoin. It has been suggested that this retinoid and exercise have a synergistic effect on muscle. The presence of marked hyperCKemia during the treatment raises concern about rhabdomyolysis.

Adolescent-onset ichthyosiform-like erythroderma with lichenoid tissue reaction: a new entity?

A patient with severe ichthyosiform erythroderma and lichenoid histological changes is presented. We discuss the clinical and histological differential diagnosis, including lupus erythematosus, lichenoid drug eruption, lichen planus, graft-versus-host disease, lymphoma, keratosis lichenoides chronica, Netherton's syndrome and ichthyosiform erythroderma. None of these is consistent with the features in our case, which may represent either a hitherto unreported form of ichthyosiform erythroderma or possibly a new entity.

Mutation in the gene for connexin 30.3 in a family with erythrokeratodermia variabilis.

Erythrokeratodermia variabilis (EKV) is an autosomal dominant keratinization disorder characterized by migratory erythematous lesions and fixed keratotic plaques. All families with EKV show mapping to chromosome 1p34-p35, and mutations in the gene for connexin 31 (Cx31) have been reported in some but not all families. We studied eight affected and three healthy subjects in an Israeli family, of Kurdish origin, with EKV.

High body mass index, dry scaly leg skin and atopic conditions are highly associated with keratosis pilaris.

Background: In a previous study we have found that young patients with insulin-dependent diabetes mellitus had a higher prevalence of keratosis pilaris (KP) than healthy controls, with a high correlation with body mass index (BMI) and ichthyosiform skin changes of the legs.

Objectives: To investigate whether BMI, dry scaly legs and atopic conditions could be associated with KP in a healthy population of adolescents.

Methods: A total of 202 Jewish adolescents chosen at random among students undergoing a routine medical examination at school participated in the study.

Migratory ichthyosiform dermatosis with type 2 diabetes mellitus and insulin resistance.

Background: In addition to the well-defined hereditary primary ichthyoses, many sporadic or less well-defined keratinization disorders with or without systemic manifestations have been reported. Herein we describe ichthyosiform dermatosis associated with type 2 diabetes mellitus.

Observations: The patients were members of a large Arab family with heavy consanguinity.

Peeling skin syndrome with hair changes.

A 13-year-old boy with typical peeling skin syndrome (PSS) is described. The clinical picture corresponded to the inflammatory variant of PSS (type B). In addition, the patient had gross and microscopic hair anomalies such as trichorrhexis invaginata-like changes, irregular hair shaft torsions and moniliform hair shaft diameter reductions.

Ichthyosiform dermatosis with superficial blister formation and peeling: evidence for a desmosomal anomaly and altered epidermal vitamin A metabolism.

We describe a man with generalized congenital ichthyosiform dermatosis, severe cheilitis, and palmar and plantar hyperkeratosis with superficial blistering. Low-dose acitretin therapy induced areas of peeling skin, similar to that seen in the peeling skin syndrome. Histologically, the skin was moderately hyperkeratotic and the palmar blisters were subcorneal.

Meleda disease: report of two cases investigated by electron microscopy.

We report 2 cases of clinically typical Meleda disease in a family from Herzegovina. Electron microscopy did not reveal major ultrastructural anomalies of keratinization; however, the transition from stratum granulosum to stratum corneum appeared to occur less abruptly than normally by a stepwise process suggesting a slowing down of terminal cornification.

Sweat studies under conditions of moderate heat stress in two patients with the Nägeli-Franceschetti-Jadassohn syndrome.

The sweating response of 2 patients with the Nägeli-Franceschetti-Jadassohn syndrome was measured by direct calorimetry. During the experiment, under conditions of moderate heat stress, the 2 patients felt comfortable and showed a normal thermoregulatory response. This tended to corroborate the patients' history which did not reveal a clear-cut heat intolerance.

The Nägeli-Franceschetti-Jadassohn syndrome: A hereditary ectodermal defect leading to colloid-amyloid formation in the dermis.

Light- and electron-microscopical examination of 4 skin biopsies from 2 members of the initially described family with Nägeli-Franceschetti-Jadassohn syndrome revealed that the already reported pigment incontinence is accompanied by varying amounts of colloid-amyloid bodies located in the superficial dermis. Occasionally, such bodies could also be seen around sweat glands in the reticular dermis. These findings indicate that cutaneous colloid-amyloid formation could be a pathogenic factor in the phenotypic expression of this autosomal dominant syndrome.

Autosomal dominant ichthyosis and X-linked ichthyosis. Comparison of their clinical and histological phenotypes.

The clinical and histologic distinction between X-linked recessive and autosomal dominant ichthyosis was studied by evaluating 12 classical differential parameters in 85 patients. Thirty-three of them had X-linked and 52 autosomal dominant ichthyosis. Eight of these parameters were generally helpful in the differential diagnosis: age of onset, severity of involvement, scale size, chapping of hands and feet, atopic background, influence of warm weather, corneal opacities and state of the granular layer.

Minor clinical features of atopic dermatitis. Evaluation of their diagnostic significance.

The diagnostic significance of 8 previously proposed minor features of atopic dermatitis (AD) was evaluated. The minor features studied were: nipple eczema, cheilitis, Dennie-Morgan infraorbital fold, pityriasis alba, anterior neck folds, wool intolerance, white dermographism and infraauricular fissuring. The incidence of these features was appreciated in 105 patients with typical AD (median age 8.

Peeling skin syndrome: a clinical, ultrastructural and biochemical study.

A case of 'peeling skin syndrome' is reported. We have demonstrated a hitherto unreported keratohyalin abnormality and a four-fold increase of cellular retinoic acid binding protein, in one of two biopsies from an erythematous, scaling lesion.