Symmetrical acrokeratoderma: a case series in Indian patients.

Symmetrical acrokeratoderma is a recently described dermatosis in young adult males of Chinese descent. In this report, we describe a series of five cases of symmetrical acrokeratoderma from India. All 5 patients had asymptomatic, brownish-black plaques distributed symmetrically over dorsum of hand and feet with variable involvement of wrist, flexural surface of forearm, elbow, ankles, shin and knee joint. Palms and soles were characteristically spared. Typically whitish maceration of the lesions was seen after immersing in water. The disease showed exacerbation in hot and humid climate with spontaneous resolution in winter. Histopathological examination showed basket weave hyperkeratosis, irregular acanthosis and mild peri-vascular lymphomononuclear infiltrate. Loosening of the stratum corneum was seen in post-immersion biopsy specimens. Acitretin appeared to provide symptomatic improvement in the short term without any long-term effect on the natural disease course. The genetic and environmental factors involved in disease causation needs to be elucidated in future. TRIAL REGISTRATION: The study was not registered in a trial registry since it was a retrospective analysis of the clinical records and not an interventional/observational study.

A novel mutation in TRPV3 gene causes atypical familial Olmsted syndrome.

Olmsted syndrome (OS) is a rare keratinization disorder, typically characterized by two primary diagnostic hallmarks--mutilating palmoplanter and periorificial keratoderma. However, there's a growing body of literature reporting on the phenotypic diversity of OS, including the absence of aforementioned hallmarks and the presence of some unusual clinical features. Here we presented an atypical familial case of OS that could be confused with Huriez syndrome due to the presence of a scleodactyly-like appearance and tapered fingers in the proband. We ruled out this possibility and made a definitive diagnosis of OS based on clinical features and a genetic assay. Recently, mutations in TRPV3 associated with autosomal dominant or recessive OS continued to be reported, thus conducing to clarifying the underlying relationship between the genotype and phenotype of OS. So we further explored the genotype-phenotype correlation by integrating functionl assays with in silico predictions. Our research not only redefined the phenotypic spectrum of OS, but also provided concrete molecular insights into how mutations in a single gene can lead to significant differences in the severity of this rare disease.

The elusive gene for keratolytic winter erythema.

Keratolytic winter erythema (KWE), also known as Oudtshoorn skin disease, is characterised by a cyclical disruption of normal epidermal keratinisation affecting primarily the palmoplantar skin with peeling of the palms and soles, which is worse in the winter. It is a rare monogenic, autosomal dominant condition of unknown cause. However, due to a founder effect, it occurs at a prevalence of 1/7 200 among South African Afrikaans-speakers. In the mid-1980s, samples were collected from affected families for a linkage study to pinpoint the location of the KWE gene. A genome-wide linkage analysis, using microsatellite markers, identified the KWE critical region on chromosome 8p23.1-p22. Subsequent genetic studies focused on screening candidate genes in this critical region; however, no pathogenic mutations that segregated exclusively with KWE were identified. The cathepsin B (CTSB) and farnesyl-diphosphate farnesyltransferase 1 (FDFT1) genes revealed no potentially pathogenic variants, nor did they show differential gene expression in affected skin. Mutation detection in additional candidate genes also failed to identify the KWE-associated variant, suggesting that the causal variant may be in an uncharacterised functional region. Bioinformatic analysis revealed highly conserved regions within the KWE critical region and a custom tiling array was designed to cover this region and to search for copy number variation. Although the study did not identify a variant that segregates exclusively with KWE, it provided valuable insight into the complex KWE-linked region. Next-generation sequencing approaches are being used to comb the region, but the causal variant for this interesting hyperkeratotic palmoplantar phenotype still remains elusive. 

Cornu cutaneum in a patient of African descent: implications and management of an uncommon lesion.

Cornu cutaneum, or giant cutaneous horn (GCH), is an uncommon but disfiguring lesion that may cause the patient considerable distress. The aesthetic implications of such lesions are obvious. The etiology and treatment of GCH are more obscure, both to patients and physicians alike. We present a female patient of African descent with a GCH of the scalp, which represents the first such case to our knowledge outside Africa. The etiology and management of GCH in all races are reviewed.

Is acquired symmetrical acrokeratoderma a new dermatosis? Two case reports and Chinese literature review.

BACKGROUND: A series of cases characterized by symmetrical acral hyperkeratosis, mainly involving the dorsal surface of the hands, feet, and wrists, but sparing the palmoplantar areas, as well as rapid immersion upon exposure to water have been recently described in China, but similar disorders have not been reported in the English literature. METHODS: The clinicopathologic features of two cases of acquired symmetrical acrokeratoderma were reported and 27 Chinese patients were reviewed. RESULTS: The disorder typically occurred in young or middle aged men. Brown to black hyperkeratotic patches were symmetrically distributed particularly on the wrists and dorsum of hands, fingers, and feet, but without involvement of palms and soles. The lesions became whitish with mild swelling immediately after contact with water and improved generally in winter. Histopathologic examination revealed epidermal hyperkeratosis, acanthosis, and papillomatous hyperplasia, as well as superficial perivascular lymphohistiocytic infiltrate. Main ultrastructural features of the immersed lesion were epidermal hyperkeratosis and spongiosis with partial split of the desmosomes. CONCLUSION: This disorder may be a new dermatosis, and the term "acquired symmetrical acrokeratoderma" could exactly reflect its clinicopathologic characteristics.

Arseniasis prevalence and mortality in a multiethnic, endemic township in Guizhou, China.

OBJECTIVE: Farmers in Southwest Guizhou Autonomous Prefecture, China, represent a unique case of arseniasis, which is related to indoor combustion of high arsenic-containing coal instead of to arsenic-contaminated drinking water. A significant difference in the prevalence of arseniasis was observed in two neighboring ethnic clans in one village. The question arose whether the ethnicity-dependent difference observed in this village was more widely spread throughout the whole township. An epidemiologic investigation was designed to explore arseniasis distribution and mortality among all four ethnic groups in a multiethnic township. METHODS: The cohort of arseniasis patients, diagnosed and registered in the overall field survey of 1991 as well as all the asymptomatic residents of the township, were enrolled in the present investigation. Indirect standardization was used for calculating the age-adjusted standardized incidence ratio (SIR) of arseniasis, the standardized mortality ratio (SMR) of various death causes (including some cancers), and their corresponding intervals of 95% confidence in both genders and in each local ethnic group. RESULTS: The descending rank of arseniasis SIRs among local ethnic groups was found as: Hui>Han>Bouyei>Hmong. The descending rank of SMRs of malignancies was displayed as: Han>Hui>Bouyei>Hmong in males and both genders together as well. Concerning deaths of non-malignant causes the rank was observed as: Hui>Han>Bouyei>Hmong in males. The arseniasis SIR for ethnic Hmong residents (both genders combined) was found to be significantly less profound than the overall level in the township. No death cases in diagnosed ethnic Hmong patients and no cases of death from malignant causes in asymptomatic Hmong residents were recorded. The significant increase of arseniasis prevalence was observed in all males, compared with the overall prevalence of all residents. However, a significantly lower prevalence was seen in all females. CONCLUSION: Significant ethnicity-dependent difference in arseniasis prevalence and mortality from all causes was found in a multiethnic rural township where farmers have been exposed to the indoor combustion of high arsenic coal for decades. The ethnic Hmong residents seemed to be the least susceptible to arseniasis among the four local ethnic groups.

Prevalence of actinic keratoses and associated factors in a representative sample of the Italian adult population: Results from the Prevalence of Actinic Keratoses Italian Study, 2003-2004.

OBJECTIVE: The Prevalence of Actinic Keratoses Italian Study (PraKtis) was designed to estimate the point prevalence of actinic keratoses (AKs) and associated factors in a representative sample of the Italian adult population. DESIGN: A representative sample of people 45 years or older was selected from the electoral rolls according to a stratified random sampling design. SETTING: A total of 180 specifically trained interviewers contacted the sampled subjects and conducted face-to-face, computer-assisted interviews and skin assessments. PARTICIPANTS: A total of 12,483 subjects contacted and interviewed from March 1, 2003, through April 30, 2004. MAIN OUTCOME MEASURES: History of AKs and evidence of AKs at the interview. RESULTS: Overall, an estimated 34% of the Italian population reported ever having undergone a dermatological examination. A history of AKs was reported by 0.3% of the total sample. Topical therapy was the most popular treatment according to 39% of subjects, whereas 25% reported that they did not receive therapy. Based on the interviewer's judgment, the point prevalence of AKs was 1.4% (95% confidence interval, 1.2%-1.8%). Forty-two percent of people with AKs were unaware of their condition. The prevalence was higher among men than women and increased steadily with age. The prevalence increased with lighter phenotype and with more severe facial wrinkling. It also increased with the reported number of hours spent in the sun during the week and on holidays. No clear variation was observed according to the reported use of sunscreens. Lesions were usually multiple (median number, 4). There was a strong association between a history of nonmelanoma skin cancers and the presence of AKs (odds ratio, 4.5; 95% confidence interval, 1.8-11.0). CONCLUSIONS: The prevalence of AKs in our study was remarkably lower than expected based on data from the United States and Australia; in Italy, AKs seem to be underdiagnosed and undertreated.

Are patients with psoriasis susceptible to the classic risk factors for actinic keratoses?

BACKGROUND: An increased prevalence of benign solar damage (eg, facial wrinkles) but not neoplastic lesions was observed among patients with psoriasis who were exposed to Dead Sea climatotherapy compared with controls. OBJECTIVES: To compare the prevalence of actinic keratosis in psoriatic patients and controls and to assess whether known risk factors behave similarly in both groups. DESIGN: Multicenter cross-sectional study. SETTING: Dermatology clinics in 4 participating Israeli hospitals and at a Dead Sea clinic. PARTICIPANTS: Adult subjects (n = 460) with plaque-type psoriasis were recruited from the Israel Psoriasis Association (volunteer sample) and from dermatology clinics (convenience sample). The control group (n = 738) consisted of nonimmunosuppressed patients attending these clinics for benign conditions unrelated to sun exposure, such as atopic or contact dermatitis. MAIN OUTCOME MEASURES: Prevalence and distribution of actinic keratoses and odds ratios associated with skin, hair, and eye color and propensity or history of sunburn adjusted for age, ethnicity, and sun exposure. RESULTS: Actinic keratoses were observed in 200 controls (27%) and 51 subjects (11%) (P<.001). This increased prevalence occurred in both sexes, participants aged 35 years or older, all ethnic groups, smokers, and nonsmokers. The anatomical distribution of lesions did not substantially differ between subjects and controls. In multivariate analysis, psoriasis conferred a protective effect (odds ratio, <1), as did dark skin, dark eyes, and a history of severe sunburn in childhood. However, significant interactions were observed between psoriasis and hair color as well as psoriasis and propensity to sunburn, whereby a linear association was observed for controls but not for patients with psoriasis. CONCLUSIONS: Psoriasis confers protection against actinic keratosis. Hair color and propensity to sunburn exert differential effects among psoriatic patients and controls.

Marginal papular acrokeratodermas: no racial limitations for a clinical spectrum that responds to acitretin.

Marginal papular acrokeratoderma (MPA) encompasses a group of disorders that share crateriform, keratotic papules along the margins of the hands and feet. We report a unique case of a Philippino woman, with focal acral hyperkeratosis (FAH) associated with sensorineural hearing loss. The clinical phenotype of FAH (hereditary MPA without elastorrhexis) is expanded and the hypothesis of a racially limited disorder is weakened. Effective treatment of this embarrassing condition with acitretin is demonstrated.