Two Novel Homozygous Desmoplakin Mutations in Carvajal Syndrome.

BACKGROUND: Mutations in various desmosomal proteins were shown to cause inherited forms of cardiomyopathy. Carvajal syndrome (Online Mendelian Inheritance in Man [OMIM] 605676) is characterized by the association of dilated cardiomyopathy, striate palmoplantar keratoderma, and woolly hair. It is caused by homozygous as well as heterozygous mutations in DSP, which encodes the desmosomal plaque protein desmoplakin. An overlapping cardiocutaneous phenotype was also described with homozygous mutations in genes encoding two other desmosomal proteins; plakoglobin (Naxos disease; OMIM 601214) and desmocollin-2 (OMIM 610476). METHODS: We performed clinical and molecular workups in two consanguineous Arab Palestinian families manifesting an autosomal recessive pattern of inheritance of the above mentioned clinical findings. Whole exome sequencing was employed in the search for the causing mutation. RESULTS: Affected family members suffered from biventricular involvement and arrhythmogenic right ventricular dysplasia based on echocardiography and magnetic resonance imaging. One patient who underwent implantation of an implantable cardioverter-defibrillator (ICD) is still alive at the age of 59 years. Whole exome sequencing revealed two novel homozygous mutations in DSP, each affecting one family. CONCLUSIONS: The association of woolly hair with palmoplantar keratoderma in a child should lead to a cardiac workup in the search for those at increased risk for sudden cardiac death. Early diagnosis and ICD implantation may be lifesaving. Whole exome sequencing should be utilized for rapid genetic analysis since the cardiocutaneous phenotype may result from mutations in one of several genes.

Prevalence of tinea pedis in psoriasis, compared to atopic dermatitis and normal controls--a prospective study.

There are discrepancies in the literature regarding the prevalence of tinea pedis in psoriasis. The aim of this investigation was to conduct a cross-sectional study of the prevalence of tinea pedis in psoriasis compared to atopic dermatitis patients and normal controls. We enrolled 232 psoriatic patients, 190 atopic dermatitis patients and 202 normal controls, between the years 2010 and 2013. The prevalence of tinea pedis was 13.8% in psoriasis patients, not significantly different from that in atopic dermatitis patients 8.4% (P = 0.092)), but significantly higher than in normal controls 7.4% (P = 0.043). Both gender and age affected the prevalence of tinea pedis in psoriasis and normal controls, while only age affected the prevalence of tinea pedis in atopic dermatitis. Regarding gender, there was higher prevalence of tinea pedis in men: 19.1% (P = 0.019) in psoriasis and 12.1% (P = 0.013) in normal controls. Age affected the prevalence of tinea pedis in normal controls (P < 0.001), psoriasis patients (P = 0.001) and atopic dermatitis patients (P = 0.001), with higher prevalence with increasing age. Trichophyton rubrum was the most common species in psoriasis (71.9%), atopic dermatitis (75.0%) and normal controls (73.3%). Our study found a relatively high prevalence of tinea pedis among psoriasis patients.

Ophthalmologic Findings in H Syndrome: A Unique Diagnostic Clue.

BACKGROUND: H syndrome is an autosomal recessive histiocytosis with multisystemic involvement caused by mutations in the SLC29A3 gene. The term H syndrome was coined to denote the major clinical findings which include hyperpigmentation, hypertrichosis, hearing loss, hepatosplenomegaly, hypogonadism, hyperglycemia/diabetes mellitus and hallux valgus/flexion contractures. Almost 100 individuals affected with this disorder have been reported, however, a thorough evaluation of the ophthalmologic features of H syndrome has not yet been performed. MATERIALS AND METHODS: Ophthalmic examination of a 50-year-old male with H syndrome. Mutation analysis of SLC29A3 was also performed in this patient. RESULTS: Ophthalmic findings included; shallow orbits with exorbitism, bilateral pterygium, limbal thickening, corneal arcus and cortical cataract. We also review ophthalmologic findings in previously reported H syndrome patients. CONCLUSIONS: The presence of dilated lateral scleral vessels, corneal arcus and shallow orbits should raise the suspicion of H syndrome, especially when seen in young age.

Prevalence of interdigital psoriasis of the feet ("psoriasis alba") in mild, moderate, and severe psoriasis.

Interdigital psoriasis of the feet ("psoriasis alba") is a rare form of inverse psoriasis. We conducted a cross-sectional study of the prevalence of interdigital psoriasis in mild, moderate, and severe psoriasis, compared to atopic dermatitis and normal controls. Data were collected during 2010-2013 from 232 psoriatic patients, 190 patients with atopic dermatitis, and 202 normal controls. The psoriatic and atopic dermatitis patients were from the dermatology department and outpatient clinic of the Hadassah-Hebrew University Medical Center in Jerusalem, Israel. The normal controls were healthy workers and volunteers from Hadassah Hospital who were not aware of any dermatological disease and had never consulted a general practitioner or dermatologist for skin problems of the feet. Our study revealed a prevalence of 2.6% of interdigital psoriasis of the feet in psoriatic patients, especially in men, and none in atopic dermatitis and normal controls. Three of the six affected patients with interdigital psoriasis of the feet complained of itching, both feet were involved in four patients, while two presented with additional palmoplantar psoriasis. The hematoxylin and eosin histopathological findings were in line with those found in inverse psoriasis. Dermatologists should be aware of this entity and treat it correctly. The diagnosis should be considered in psoriatic patients presenting with whitish plaque or patches in the toe-webs, in whom the fungal test is negative and are not responding to antimycotic treatment.