Acanthosis nigricans in a child with mild osteochondrodysplasia and K650Q mutation in the FGFR3 gene.

A girl with a mild sporadic osteochondrodysplasia (OCD) similar to hypochondroplasia but with significant short stature is reported. She has been followed clinically between the ages of 9 months and 14 years. Growth remained normal throughout childhood with stature evolving about 3.

Origin, clinical presentation, and diagnosis of hypomelanotic skin disorders.

Hypomelanotic skin disorders are cutaneous pigmentary disorders characterized by a reduced melanin content in the skin that results in a lightening of the skin. Establishing the correct diagnosis for hypomelanotic skin disorders requires a good history, a detailed physical examination, the use of special lighting techniques, such as Wood's light, and sometimes a biopsy of the abnormally pigmented skin and the normally pigmented skin. This article focuses on the origin, clinical presentation, and diagnosis of acquired hypomelanotic skin disorders.

End-stage disease of native kidneys in a patient with biopsy-proven Arndt-Gottron scleromyxoedema and recurrence in the transplanted kidney.

End-stage renal disease-stage 5 chronic kidney disease (CKD)-of the native kidneys, related to biopsy-proven Arndt-Gottron scleromyxoedema, developed in a male patient. From 1998 until 2001, the patient was treated by haemodialysis. In June 2001, cadaveric kidney transplantation was performed.

Topical pimecrolimus in the treatment of vitiligo.

Although the treatment of vitiligo has improved during the last decade, therapy is still not satisfactory for many patients. Recently topical calcineurin inhibitors were introduced in the treatment of atopic dermatitis. Considering the autoimmune hypothesis of vitiligo pathogenesis, the use of these topical calcineurin inhibitors seems reasonable.

The quest for the mechanism of melanin transfer.

Skin pigmentation is accomplished by production of melanin in specialized membrane-bound organelles termed melanosomes and by transfer of these organelles from melanocytes to surrounding keratinocytes. The mechanism by which these cells transfer melanin is yet unknown. A central role has been established for the protease-activated receptor-2 of the keratinocyte which effectuates melanin transfer via phagocytosis.

Subjective and objective evaluation of noncultured epidermal cellular grafting for repigmenting vitiligo.

Background: Noncultured epidermal cell transplantation in vitiligo permits the coverage of relatively large areas without culturing cells.

Objective: To investigate the effectiveness of noncultured epidermal cell transplantation in treating stabilized vitiligo using objective and subjective evaluation methods.

Methods: Noncultured autologous melanocytes and keratinocytes were grafted in a hyaluronic-acid-enriched suspension on superficially laser-abraded vitiligo lesions in 40 patients with refractory stable vitiligo (30 with generalized and 10 with localized vitiligo).

Use of calcipotriene cream (Dovonex cream) following acute treatment of psoriasis vulgaris with the calcipotriene/betamethasone dipropionate two-compound product (Taclonex): a randomized, parallel-group clinical trial.

Introduction: A calcipotriene/betamethasone dipropionate two-compound product (Taclonex ointment) has been shown to be safe and effective in the treatment of psoriasis over 4 weeks. Since treatment of psoriasis is generally long-term, the objective of this study was to investigate the efficacy and safety of transferring patients to maintenance treatment with calcipotriene cream (Dovonex cream) following a 4-week treatment period with the two-compound product.

Methods: Patients with psoriasis were randomized to one of the following three treatment groups: 4 weeks of the two-compound product followed by 8 weeks of calcipotriene cream (calcipotriene cream group); 4 weeks of the two-compound product followed by 8 weeks of calcipotriene cream on weekdays and the two-compound product on weekends (alternating group); 4 weeks of the two-compound product followed by 8 weeks of vehicle of calcipotriene cream (vehicle group).

Café-au-lait spots in neurofibromatosis type 1 and in healthy control individuals: hyperpigmentation of a different kind?

Solitary café-au-lait spots are quite common in the general population but multiple café-au-lait macules (CALM) are often indicative of an underlying genetic disorder. The frequency of having more than five CALM is rare in normal individuals and is therefore considered as a cut-off for the diagnosis of neurofibromatosis type 1 (NF1). The etiopathogenesis of these macules is still very obscure.

Consistent cutaneous imaging with commercial digital cameras.

Objective: To demonstrate how to improve the reproducibility and accuracy of digital images of the skin taken with commercially available digital cameras by transforming them to a standard color space, sRGB.

Methods: Our computer algorithm transforms digital images to the standard sRGB color space. It is based on a card with a number of color squares with known colorimetric properties that is included in the image, thereby removing any ambiguity about the color information in the image.

Neurofibromatosis type 1 protein and amyloid precursor protein interact in normal human melanocytes and colocalize with melanosomes.

The neurofibromatosis type 1 (NF1) gene product, neurofibromin, is known to interact with Ras, thereby negatively regulating its growth-promoting function. Although this is a well-established interaction, the discovery of other neurofibromin interacting partners could reveal new functional properties of this large protein. Using yeast two-hybrid analysis against a brain cDNA library, we identified a novel interaction between the amyloid precursor protein and the GTPase activating protein-related domain of neurofibromin.

The importance of socio-economic status and individual characteristics on the prevalence of head lice in schoolchildren.

Pediculosis is a common infestation in schoolchildren but little is known about the factors influencing its prevalence. The aim of this study was to determine the prevalence of head lice in schoolchildren in Ghent and to investigate the independent association between individual characteristics of the child, socio-economic status (SES) of the family and head lice. The prevalence of head lice at baseline and 14 days after treatment advice was determined by the wet combing method in a total of 6,169 schoolchildren age 2.

Different approaches for assaying melanosome transfer.

Many approaches have been tried to establish assays for melanosome transfer to keratinocytes. In this report, we describe and summarize various novel attempts to label melanosomes in search of a reliable, specific, reproducible and quantitative assay system. We tried to fluorescently label melanosomes by transfection of GFP-labeled melanosomal proteins and by incubation of melanocytes with fluorescent melanin intermediates or homologues.

Gene expression profiling of cultured human NF1 heterozygous (NF1+/-) melanocytes reveals downregulation of a transcriptional cis-regulatory network mediating activation of the melanocyte-specific dopachrome tautomerase (DCT) gene.

One of the major primary features of the neurocutaneous genetic disorder Neurofibromatosis type 1 are the hyperpigmentary café-au-lait macules where disregulation of melanocyte biology is supposed to play a key etiopathogenic role. To gain better insight into the possible role of the tumor suppressor gene NF1, a transcriptomic microarray analysis was performed on human NF1 heterozygous (NF1+/-) melanocytes of a Neurofibromatosis type 1 patient and NF1 wild type (NF1+/+) melanocytes of a healthy control patient, both cultured from normally pigmented skin and hyperpigmented lesional café-au-lait skin. From the magnitude of gene effects, we found that gene expression was affected most strongly by genotype and less so by lesional type.

Knowledge and management of scabies in general practitioners and dermatologists.

Scabies is an infectious skin disease with an increasing incidence during the past decade. A survey was conducted among general practitioners (GPs) and dermatologists in the region of Ghent, Belgium, to explore their knowledge on scabies. Information on the treatment advice given and the frequency of reporting scabies to the Health Inspection was also collected.

Method to measure force required to remove Pediculus humanus capitis (Phthiraptera: Pediculidae) eggs from human hair.

Head lice are very common and mainly affect children between 3 and 12 yr old. Little is known about the way nits, the eggs of the head louse, are attached to the hair. In this report, an objective measurement procedure for the ease with which nits can be removed is presented.

Pigment cell-related manifestations in neurofibromatosis type 1: an overview.

Neurofibromatosis type 1 (NF1) is an autosomal dominant neurocutaneous disorder, affecting approximately 1 in 3500 individuals. The most commonly seen tumors in NF1 patients are the (sub)cutaneous neurofibromas. However, individuals with NF1 typically present in childhood with well-defined pigmentary defects, including cafe-au-lait macules (CALMs), intertriginous freckling and iris Lisch nodules.

Double-blind placebo-controlled study of autologous transplanted epidermal cell suspensions for repigmenting vitiligo.

Objectives: To investigate the efficacy of epidermal noncultured cellular grafting in patients with vitiligo and the role of postinflammatory, spontaneous, or UV-induced pigmentation in obtaining repigmentation.

Design: A prospective, randomized, double-blind, placebo-controlled study.

Setting: Ambulatory patients in an institutional practice.

Loss-of-function mutations in LEMD3 result in osteopoikilosis, Buschke-Ollendorff syndrome and melorheostosis.

Osteopoikilosis, Buschke-Ollendorff syndrome (BOS) and melorheostosis are disorders characterized by increased bone density. The occurrence of one or more of these phenotypes in the same individual or family suggests that these entities might be allelic. We collected data from three families in which affected individuals had osteopoikilosis with or without manifestations of BOS or melorheostosis.

Multiple myofibromas and an epidermal verrucous nevus in a child with neurofibromatosis type 1.

Neurofibromatosis type 1 (NF1) is a common neurocutaneous autosomal dominant genetic disorder affecting primarily tissues derived from the embryonic neural crest. Two hallmark features of NF1 are the wide range of potentially affected tissues and the enormous phenotypic variability of disease traits even among patients from the same family. We present a boy fulfilling the diagnostic criteria for NF1 with two unusual lesions: infantile myofibromatosis and a verrucous epidermal nevus.

Rab27b is up-regulated in human Griscelli syndrome type II melanocytes and linked to the actin cytoskeleton via exon F-Myosin Va transcripts.

Patients with the autosomal recessive Griscelli-Pruniéras syndrome type II are immunologically impaired and have an unusual silvery-grey hypopigmented colour of scalp hair, eyelashes and eyebrows but no noteworthy pigmentary abnormalities of the skin. In most Griscelli patients, the RAB27A gene, which encodes a small GTPase that is associated with the melanosome membrane in melanocytes, is mutated. Here we discuss a genomic RAB27A deletion found in a 21-month-old Moroccan Griscelli patient.

Management of vitiligo patients and attitude of dermatologists towards vitiligo.

As vitiligo does not cause any physical impairment, it is often considered unimportant by physicians. Vitiligo patients repeatedly experience disinterest from the medical world regarding their skin problem. A questionnaire survey was used to assess the management of vitiligo patients and the attitude of dermatologists towards vitiligo in Belgium.

A new digital image analysis system useful for surface assessment of vitiligo lesions in transplantation studies.

So far there is no uniformity in the evaluation methods used in the assessment of treatment outcome in vitiligo studies. The ability to objectively measure surfaces of vitiligo lesions is important for both clinical practice and research. Our objective was to assess the reproducibility, accuracy, user-friendliness and time effectiveness of a new digital image analysis system for surface measurement of vitiligo lesions.

Cutis laxa of the autosomal recessive type in a consanguineous family.

Cutis laxa comprises a group of uncommon disorders of elastin fibers first described by Graf in the early 19th century. The main characteristic is a redundant, loose skin with deep wrinkling or sagging combined with a variable systemic involvement. Histopathologic examination presents various abnormalities of the elastin fibers.