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Background Mutations in lipase H ( LIPH ) are a rare cause of autosomal recessive hypotrichosis (HT) simplex. Objective In this study, we investigated the clinical and molecular basis of HT simplex with woolly hair in 3 nonrelated families. Methods Three families of Jewish, Arab Muslim, and Italian origin that presented with HT with woolly hair were studied. The phenotype was confirmed by clinical, microscopic, and histologic examination. Polymorphic microsatellite genotyping and direct automated DNA sequencing of the LIPH gene were used to identify the mutations in our probands. Results All patients had woolly hair since birth. At presentation, scalp hair density was reduced or normal. Sequencing of the LIPH gene revealed two homozygous mutations: a large recurrent 90-base pair duplication mutation in exon 2 in the Jewish and Arab families, and a novel deletion/insertion mutation in exon 4 in the Italian family. Limitations Only 3 families were studied. Conclusion Mutations in LIPH result in variable degrees of HT. Woolly hair is an essential component of the clinical spectrum. A hot spot in the LIPH gene may be c.280_369dup in exon 2.

Cutaneous leishmaniasis is usually easy to recognize; however, several atypical features exist, which may pose a diagnostic challenge. Here we report a 55-year-old female patient, who presented with an itchy and painful eruption localized in a dermatomal distribution along the right upper chest. Although the clinical appearance of the lesions suggested the diagnosis of herpes zoster, dermoscopic evaluation revealed erythema, hyperkeratosis, burst star whitish appearance and hairpin vessels, compatible with the diagnosis of cutaneous leishmaniasis. Indeed, leishmania amastigotes were detected by smear from the lesions. Zosteriform presentation of cutaneous leishmaniasis, as exemplified by our patient, is especially rare. In our case dermoscopy has proven to be an accessible and easy tool to diagnose such atypical presentation of cutaneous leishmaniasis, and dermatologists in endemic areas should be familiar with its typical dermoscopic features.

Background: The allergic crease (nasal crease) is a transverse line, common among patients who suffer from allergic rhinitis. Although it is a very prevalent condition, the skin manifestations which accompany this condition have been only sparsely reported. Main observation: We describe an 18-year-old man with allergic rhinitis, who developed cornified papules along an allergic crease. Dermoscopic examination revealed oval, slightly raised, gray, sharply demarcated papules. Histopathology revealed seborrheic keratosis like hyperplasia, accompanied by horn cysts. Conclusions: To our knowledge, cornified papules have not been reported previously along the allergic crease. Considering the fact that allergic rhinitis is a common chronic condition of childhood, increased awareness of the skin manifestations which accompany this condition is essential. ____________________________________________________ Ramot Y, Maly A, Zlotogorski A, Nanova K. Atypical "allergic crease". J Dermatol Case Rep. 2010; 4(3): 36-37.

13 páginas, 7 figuras, 3 tablas., Alopecia areata (AA) is a genetically determined, immune-mediated disorder of the hair follicle that affects 1%-2% of the U.S. population. It is defined by a spectrum of severity that ranges from patchy localized hair loss on the scalp to the complete absence of hair everywhere on the body. In an effort to define the genetic basis of AA, we performed a genomewide search for linkage in 20 families with AA consisting of 102 affected and 118 unaffected individuals from the United States and Israel. Our analysis revealed evidence of at least four susceptibility loci on chromosomes 6, 10, 16 and 18, by use of several different statistical approaches. Fine-mapping analysis with additional families yielded a maximum multipoint LOD score of 3.93 on chromosome 18, a two-point affected sib pair (ASP) LOD score of 3.11 on chromosome 16, several ASP LOD scores >2.00 on chromosome 6q, and a haplotype-based relative risk LOD of 2.00 on chromosome 6p (in the major histocompatibility complex locus). Our findings confirm previous studies of association of the human leukocyte antigen locus with human AA, as well as the C3H-HeJ mouse model for AA. Interestingly, the major loci on chromosomes 16 and 18 coincide with loci for psoriasis reported elsewhere. These results suggest that these regions may harbor gene(s) involved in a number of different skin and hair disorders., This work was supported in part by grants from the NAAF (to A.M.C. and A.Z.), Israeli Alopecia Areata Fund (to A.Z.), Columbia University Clinical Trials Office Pilot Award (to A.M.-M.), the North American Hair Research Society Mentorship Award (to A.M.-M.), and the National Institutes of Health: National Institute of Arthritis and Musculoskeletal and Skin Diseases grants N01AR02249 (AA Registry [to M.D.]), R03AR050158 (to A.M-M. and J.M.), and R01AR52579 (to A.M.C.) and National Institute of Mental Health grant R01MH44292 (to J.O.).