Marina Landau

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. After having mapped the disorder to chromosome 1p34-p35, we found no mutations in the genes for Cx31, Cx31.1, and Cx37. Further investigation revealed a heterozygous T-->C transition leading to the missense mutation (F137L) in the human gene for Cx30.3 that colocalizes on chromosome 1p34-p35. This nucleotide change cosegregated with the disease and was not found in 200 alleles from normal individuals. This mutation concerns a highly conserved phenylalanine, in the third transmembrane region of the Cx30.3 molecule, known to be implicated in the wall formation of the gap-junction pore. Our results show that mutations in the gene for Cx30.3 can be causally involved in EKV and point to genetic heterogeneity of this disorder. Furthermore, we suggest that our family presents a new type of EKV because of the hitherto unreported association with erythema gyratum repens.

The diagnostic value of café-au-lait macules

Single café-au-lait macules (CALMs) are common in the pediatric population and in most children represent a normal finding. It is important to recognize whether the presence of multiple CALMs in a particular patient is normal or indicates an association with a multisystem disorder. This article addresses issues concerning the prevalence, genetics, and natural history of CALMs in the general population and reviews disorders in which CALMs are present as a characteristic trait.

Exogenous Factors in Skin Aging

The dramatic alteration in the appearance of the skin with aging is related to both intrinsic (genetic) and exogenous factors. While intrinsic aging is an insidious degenerative process predictable in outcome, the superposition of environmental factors is neither universal nor inevitable. There are distinct morphologic and histological features differentiating intrinsic and extrinsic aging of the skin. The most well appreciated environmental factors affecting skin aging are sun exposure and smoking. Recent advances in molecular biology have increased our understanding of the mechanisms by which exogenous factors contribute to the cutaneous aging. The skin is equipped with numerous inherent mechanisms that protect and defend against accelerating aging. But the efficacy of these mechanisms decreases significantly over a lifetime. In this review, we summarize the features of extrinsic aging and biochemical steps involved in this process.

Histopathologic findings in drug-induced pemphigus

Drug-induced pemphigus represents a diagnostic challenge, as usually no clinical feature differentiates it from its idiopathic counterpart. It was suggested recently that some histologic features may assist in diagnosing drug-associated diseases. The purpose of the study was to determine whether the histologic criteria suggested in the literature are specific enough to arouse suspicion of drug-induced pemphigus. Biopsy specimens of drug-induced and idiopathic pemphigus were reviewed by five dermatologists with no clinical data available about the patients. The sections were assessed to the presence of spongiosis with eosinophils, vacuolar degeneration, and the degree of acantholysis and cleavage level. Using the suggested criteria, the reviewers were unable to confirm a diagnosis of drug-induced pemphigus. It is advisable to consider drug etiology in every case of newly diagnosed pemphigus based on clinical criteria an detailed drug consumption history, as histologic features do not differentiate between drug-associated and idiopathic disease.

Erythrokeratodermia Variabilis with Erythema Gyratum Repens-Like Lesions

Abstract: 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.

Combination of chemical peelings with botulinum toxin injections and dermal fillers

Background  Chemical peelings are one of the most powerful and diverse tools for skin rejuvenation. Depending on the chemical used, peelings are classified as superficial, medium, and deep. The depth of the peeling must be adjusted to the depth of the pathological process to be corrected. Deeper peels can eliminate pigmentary spots and wrinkles but are associated with longer recovery time. Chemical peels can be used in conjunction with other nonsurgical methods for skin rejuvenation such as botulinum toxin A (BTX‐A) and dermal fillers. Surprisingly, descriptions of such combinations are rare in the current medical literature.

Screening for tumour suppressor p16(CDKN2A) germline mutations in Israeli melanoma families.

Abstract Approximately ten percent of patients with malignant melanoma have family histories of the disease, suggesting a genetic predisposition. Germline mutations in tumour suppressor p16 gene have been implicated as disease causing mutations in some of the melanoma families. The frequency of families with p16 germline mutations among melanoma prone families varies from eight to fifty percent. The range of the variability is influenced apparently by the number of melanoma affected individuals within the family, as well as by other, yet unidentified factors. Ethnic background is known to determine both the frequency and the nature of germline alterations. Recently, specific mutations in tumour suppressor genes involved in breast cancer and in colon cancer were found at elevated frequency among Ashkenazi Jews. This report describes results of a screening for p16 germline alterations in a collection of Israeli melanoma families. We have analyzed genomic DNA from thirty one Ashkenazi and non-Ashkenazi Jewish melanoma families, as well as from thirty melanoma patients without an apparent family history of the disease. The entire coding region of the p16 gene was screened by single strand conformation polymorphism analysis and direct DNA sequencing. We have detected a number of carriers with the Ala148 Thr polymorphism at the end of the second exon and several instances of 500(G⇒C) substitution at the 3′ untranslated portion of the gene.

Early treatment of pemphigus does not improve the prognosis A review of 53 patients

Background With the introduction of systemic steroids to control pemphigus vulgaris the prognosis and survival of these patients has changed dramatically. However, in contrast to their beneficial effects, in a once almost inevitably fatal disease, the steroid therapy has created other problems, including cases of mortality.

Hyaluronidase Caveats in Treating Filler Complications.

BACKGROUND Most of the complications associated with hyaluronic acid (HA) fillers can be addressed by hyaluronidase. Extensive experience with this enzyme was accumulated in ophthalmology and anesthesia. In dermatologic use multiple aspects still remain controversial. OBJECTIVE To elucidate questions with regard to hyaluronidase use in HA-induced complications, including appropriate dosage, timing, and technique of delivery, differences in the activity of hyaluronidases of different origins, interaction between the enzymes and different HA gels, and safety issues. MATERIALS AND METHODS Extensive review of the relevant literature was conducted. The conclusions are based on this review and personal authors experience. RESULTS FDA-approved hyaluronidases provide predictable results and can be used interchangeably. A physician has to be closely familiar with specific characteristics of other hyaluronidases. Different brands of HA fillers have different sensitivity to degradation by hyaluronidase. For filler overcorrection or misplacement, low dose of the enzyme has to be injected directly into the palpable HA mass. In case of vascular accident, flushing of the ischemic area with high doses of hyaluronidase is required. Hypersensitivity reactions to hyaluronidase are so far not reported in dermatologic literature. CONCLUSION With increased popularity of HA fillers, hyaluronidase had become an indispensable tool in dermatology office. It is safe and reliable for treatment of HA-induced complications.

Lip Augmentation and Rejuvenation Using Dermicol-P35 30G: Personal Experiences From My Clinic

Predictable changes in the lips caused by aging often prompt women to seek lip augmentation and/or rejuvenation. This article describes the clinical experience of patients who underwent lip augmentation and rejuvenation procedures using Dermicol-P35 30G (Evolence Breeze; Ortho Dermatologics, Skillman, NJ) a novel, D-ribose cross-linked, porcine collagen dermal filler. The majority of patients reported that the improvement afforded by Dermicol-P35 30G was either good or very good 3 months after their procedure, with minimal adverse effects.