References: Hair growth and hair loss
wfubmc.edu
OBJECTIVE: To present the otolaryngologic manifestations and management of 12 patients with the rare presentation of ectodermal dysplasia. STUDY DESIGN: A retrospective chart review combined with a patient evaluation by the specialties of genetics, dermatology, dentistry, and otolaryngology. METHODS: A review of the head and neck manifestations of the spectrum ectodermal dysplasia was undertaken by a retrospective chart review performed at a tertiary care children's hospital combined with a multidisciplinary evaluation by specialties of genetics, dermatology, dentistry, and otolaryngology. RESULTS: All 12 patients had confirmed ectodermal dysplasia by genetic evaluation with strong familial manifestations of the spectrum. Seven of 12 patients presented with X-linked hypohidrotic ectodermal dysplasia. Three of these seven were femalepatients and presented with variable expression. Common otolaryngologic manifestations included eczematoid skin changes, unusual facies, hypodontia, sparse scalp hair, chronic infections (rhinitis, pharyngitis, otitis media), epistaxis, ocular drying with corneal injury, dysphagia, hearing loss, and dysphonia. Immune evaluation was normal. Nasal cilia were deficient. CONCLUSIONS: Ectodermal dysplasia is a rare syndrome with heterogeneous manifestations secondary to hypoplasia of the mucous glands of the upper aerodigestive tract and ectodermal abnormalities. The spectrum is marked byhypohidrosis, recurrent ocular infections, chronic rhinitis, hypodontia, dystrophic nails, alopecia, and atypical facies. The recognition of this syndrome allows early management of ocular, dental, infectious, and dermatologic concerns with a multidisciplinary approach to management. Direct otolaryngologic management includes ocular and oral lubrication, treatment of infectious complications, and intervention to prevent and address hearing loss.
online pharmacy ref. source: www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=12160292&dopt=Abstract
sprd1.mdacc.tmc.edu
We previously described an autosomal-recessive mutation named nackt (nkt) exhibiting partial alopecia associated with CD4(+) T-cell deficiency. Also, we recently reported that nkt (now Ctsl(nkt)) comprises a deletion in the cathepsin L (Ctsl) gene. Another recent study reported that Ctsl knockout mice have CD4(+) T-cell deficiency and periodic shedding of hair, which recapitulate the nkt mutation and the old furless (fs) mutation. The current study focuses on the dermatological aspects of the nkt mutation. Careful histological analysis of skin development of homozygous nkt mice revealed a delayed hair follicle morphogenesis and late onset of the first catagen stage. The skin of Ctsl(nkt)/Ctsl(nkt) mice showed mild epidermal hyperplasia and hyperkeratosis, severe hyperplasia of the sebaceous glands, and structural alterations of hair follicles. Epidermal differentiation seems to be affected in nkt skin, with overexpression of involucrin and profilaggrin/filaggrin along with focal areas of keratin 6 expression in the interfollicular epidermis. Severe epidermal hyperplasia, acanthosis, orthokeratosis, and hyperkeratosis were only observed in mice maintained in nonpathogen-free environments. The analysis of Rag2-/- Ctsl(nkt)/Ctsl(nkt) double-mutant mice indicates that the skin defect remains under the absence of T and B cells. This animal model provides in vivo evidence that cysteine protease cathepsin L plays a critical role in hair follicle morphogenesis and cycling, as well as epidermal differentiation.
online pharmacy ref. source: www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=12163394&dopt=Abstract
dux.dundee.ac.uk
Defolliculated is a novel spontaneous mouse mutation that maps to chromosome 11 close to the type I keratin locus. Histology shows abnormal differentiation of the sebaceous gland, with the sebocytes producing little or no sebum and undergoing abnormal cornification. The hair follicles fail to regress during catagen leading to abnormally long follicles. In contrast the hair shafts are shorter than normal, suggesting altered differentiation or proliferation of matrix cells during anagen. The shafts emerge from the follicle with cornified material still attached. The dermis contains increased numbers of immune cells, including T cells (CD4-positive), macrophages, and mast cells, at all time points examined. Complete elimination of all pelage and tail follicles occurs after two to three hair cycles, apparently by necrosis. Defolliculated may be a useful model for determining further functions of the sebaceous gland, and for understanding the regulation of catagen and hair follicle immunology.
online pharmacy ref. source: www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=12164921&dopt=Abstract
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