References: Hair growth and hair loss
medecine.univ-mrs.fr
The pathogenic role of Rickettsia slovaca was first demonstrated in 1997 in a patient who presented with a single inoculation lesion of the scalp and enlarged cervical lymph nodes after receiving a bite from a Dermacentor tick. Subsequently, we evaluated the occurrence of R. slovaca infections among patients living in France and Hungary who presented with these symptoms. R. slovaca infections were confirmed by polymerase chain reaction (PCR) in 17 of 67 enrolled patients. Infections were most likely to occur in patients aged <10 years and in patients who were bitten during the colder months of the year. The median duration of incubation for the disease was 7 days. Fever was present in only 2 patients, and only 1 patient developed a rash. Sequelae included persistent asthenia (3 cases) and localized alopecia (4 cases). Immunofluorescence and/or Western blot analysis detected antibodies in 50% of tested patients. Three Dermacentor ticks obtained from patients revealed R. slovaca by PCR.
online pharmacy ref. source: www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=11981728&dopt=Abstract
J Invest Dermatol. 2002 May;118(5):881-6.
Evidence for pseudodominant inheritance of atrichia with papular lesions.
Zlotogorski A, Martinez-Mir A, Green J, Lamdagger H, Panteleyevdagger AA, Sinclair R, Christiano AM.
Department of Dermatology, Hadassah University Medical Center, Jerusalem, Israel.
Atrichia with papular lesions is a rare form of total alopecia, in which mutations in the hairless gene have been shown to underlie the phenotype. In the literature to date, atrichia with papular lesions has generally been reported to be inherited in an autosomal recessive manner. A few rare cases exist, however, in which parent-to-child transmission of atrichia with papular lesions has been documented. In this study, further investigations were carried out into the molecular basis of atrichia with papular lesions in a family with mother-to-son transmission by searching for mutations in the human hairless gene. Specific ally, we wanted to determine whether this case truly represented an example of dominantly inherited atrichia with papular lesions, or whether another mode of inheritance might be responsible for the disorder in this kindred. Pseudodominant inheritance, for example, occurs when an individual with a known recessive disorder has a clinically unaffected partner, but then unexpectedly gives birth to children who are affected with the same recessive disorder as the affected parent, and can easily be distinguished from classical dominant inheritance with molecular diagnosis and haplotype analysis. In the family reported here, we have determined that both the mother and son are, in fact, homozygous for a novel mutation in the hairless gene, R33X. We provide the first evidence for pseudodominant inheritance in atrichia with papular lesions, and at the same time extend our knowledge of pathogenetic mutations in the human hairless gene. Importantly, this information allows revisions in genetic counseling for risk of transmission for individuals in the family, previously impossible in the absence of knowing the genetic basis of atrichia with papular lesions in this unusual kindred.
online pharmacy ref. source: www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=11982769&dopt=Abstract
J Invest Dermatol. 2002 May;118(5):887-90.
Clinical and molecular diagnostic criteria of congenital atrichia with papular lesions.
Zlotogorski A, Panteleyev AA, Aita VM, Christiano AM.
Department of Dermatology, Hadassah Medical Center, Jerusalem, Israel.
Congenital atrichia with papular lesions is a rare, autosomal recessive form of total alopecia and mutations in the hairless (hr) gene have been implicated in this disorder. Published estimates of the prevalence of this disorder remain surprisingly low considering pathogenetic mutations in hr have been found in distinct populations around the world. Therefore, it is likely that congenital atrichia with papular lesions is more common than previously thought and is often mistaken for the putative autoimmune form of alopecia universalis. To clarify this discrepancy, we propose criteria for the clinical diagnosis of congenital atrichia with papular lesions. Among these is the novel report of the consistent observation of hypopigmented whitish streaks on the scalp surface of affected individuals. Additionally, we report the identification of a novel missense mutation in hr from a family of Arab Palestinian origin that exhibits the pathognomonic features of atrichia with papular lesions. Collectively, we anticipate that an increased recognition of this disorder will result in more accurate diagnosis and the sparing of unnecessarily treatment to patients.
online pharmacy ref. source: www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=11982770&dopt=Abstract
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