References: Hair growth and hair loss
Nat Genet. 1999 Jul;22(3):291-4.
Mutations in the gene encoding 3 beta-hydroxysteroid-delta 8, delta 7-isomerase cause X-linked dominant Conradi-Hunermann syndrome.
Braverman N, Lin P, Moebius FF, Obie C, Moser A, Glossmann H, Wilcox WR, Rimoin DL, Smith M, Kratz L, Kelley RI, Valle D.
Department of Pediatrics, Johns Hopkins University School of Medicine, Baltimore, Maryland 21205, USA.
X-linked dominant Conradi-Hunermann syndrome (CDPX2; MIM 302960) is one of a group of disorders with aberrant punctate calcification in cartilage, or chondrodysplasia punctata (CDP). This is most prominent around the vertebral column, pelvis and long bones in CPDX2. Additionally, CDPX2 patients may have asymmetric rhizomesomelia, sectorial cataracts, patchy alopecia, ichthyosis and atrophoderma. The phenotype in CDPX2 females ranges from stillborn to mildly affected individuals identified in adulthood. CDPX2 is presumed lethal in males, although a few affected males have been reported. We found increased 8(9)-cholestenol and 8-dehydrocholesterol in tissue samples from seven female probands with CDPX2 (ref. 4). This pattern of accumulated cholesterol intermediates suggested a deficiency of 3beta-hydroxysteroid-delta8,delta7-isomerase (sterol-delta8-isomerase), which catalyses an intermediate step in the conversion of lanosterol to cholesterol. A candidate gene encoding a sterol-delta8-isomerase (EBP) has been identified and mapped to Xp11.22-p11.23 (refs 5,6). Using SSCP analysis and sequencing of genomic DNA, we found EBP mutations in all probands. We confirmed the functional significance of two missense alleles by expressing them in a sterol-delta8-isomerase-deficient yeast strain. Our results indicate that defects in sterol-delta8-isomerase cause CDPX2 and suggest a role for sterols in bone development.
online pharmacy ref. source: www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=10391219&dopt=Abstract
mail.uni-wuerzburg.de
This paper focuses on four important hair diseases mainly occurring in children. Trichotillomania is the most relevant differential diagnosis of alopecia areata in childhood. Meticulous inspection and lack of telogen hairs in the trichogram from the margin of the lesion usually are sufficient for differentiation. The trichogram also plays a significant role for the diagnosis of the loose anagen hair (loose anagen syndrome), a fairly new, but not rare entity, especially in distinguishing it from telogen effluvium. Five different types of clinical presentation are distinguished in tinea capitis. For the necessary systemic therapy; the new antimycotics terbinafine and itraconazole represent good alternatives to the well-tried griseofulvin. Several effective therapeutic options are also available for head lice, the most frequent parasitary infestation of school age. However, because of its neurotoxicity and the increasing problem of lice resistance lindane should not be used any longer for the treatment of head lice.
online pharmacy ref. source: www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=12090118&dopt=Abstract
Ther Umsch. 2002 May;59(5):233-7.
[Alopecia areata]
[Article in German]
Friedli A, Harms M.
Policlinique de la Dermatologie, Hopital Cantonal Universitaire de Geneve.
Alopecia areata is a frequent cause of hair loss. The origin of disease is not fully understood. However there are indications for a T-cell mediated autoimmune process. Genetic, immunologic and psychologic factors are important for the outbreak of disease. Most patients show localized patches of acute hair loss, where regrowth is observed spontaneously or with simple topical treatment within few months. In up to 15% of patients severe forms of disease can develop with total scalp (alopecia totalis) or scalp and body hair loss (alopecia universalis). There are only few known risk factors for development of a severe form. Although spontaneous remission is possible in these cases, it occurs rarely and treatment is difficult. Multifocal alopecia areata responds to intravenous high-dose corticosteroids. Topical immunotherapy with diphenylcyclopropenone (DPC) or PUVA therapy may be effective in longstanding and widespread disease. The unpredictable course of disease is a major handicap for clinical trials and treatment recommendations. Contact of patients with self-help organisations may be of help for coping with the disease.
online pharmacy ref. source: www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=12090120&dopt=Abstract
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