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Topic: Marie Unna congenital hypotrichosis


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In the News (Tue 5 Jun 12)

  
  Marie Unna congenital hypotrichosis
Marie Unna hereditary hypotrichosis (MUHH) is a rare isolated anomaly of the hair.
It was first described by Dr Marie Unna in 1925 in 27 members of one family over seven generations.
It is an autosomal dominant genodermatosis with linkage by a distinct gene close to the hairless locus on chromosome 8p22-p21.
www.orpha.net /static/GB/marie_unna_congenital_hypotrichosis.html   (198 words)

  
 American Hair Loss Association - Types of Hair Loss / Congenital Hypotrichosis
Hypotrichosis is the term dermatologists use to describe a condition of no hair growth.
Aplasia cutis congenita, or congenital aplasia, is a developmental defect where, for reasons not understood, the skin does not fully form as an embryo develops.
While congenital atrichia is genetic and runs in families, it is a gene defect that can spontaneously develop in some embryos born to parents who do not have the condition.
americanhairloss.org /types_of_hair_loss/congenital_hypotrichosis.asp   (772 words)

  
 A novel locus for autosomal recessive form of hypotrichosis maps to chromosome 3q26.33-q27.3 -- Aslam et al. 41 (11): ...
Autosomal recessive congenital atrichia (MIM 203655) is the
Marie Unna hereditary hypotrichosis (MUHH, MIM 146550) is an
Hypotrichosis simplex of the scalp is associated with nonsense mutations in CDSN encoding corneodesmosin.
jmg.bmjjournals.com /cgi/content/full/41/11/849   (2291 words)

  
 Help for Hair Loss: Congenital Hypotrichosis
A few forms of hypotrichosis are worth mentioning, either because they are relatively common or because they are interesting in terms of understanding hair follicles.
Congenital atrichia or papular atrichia is a unique condition in terms of the hair loss pattern.
The mechanism of congenital atrichia is not fully understood, but it seems that as the hair follicles enter their first resting (telogen) state in early childhood, the two cell types get separated from each other.
webmd.com /NR/internal.asp?GUID={01E2F12E-9147-4300-BEAA-8573FC746533}   (794 words)

  
 Medical Dictionary: Marie Unna congenital hypotrichosis - WrongDiagnosis.com
Marie Unna congenital hypotrichosis is listed as a "rare disease" by the Office of Rare Diseases (ORD) of the National Institutes of Health (NIH).
This means that Marie Unna congenital hypotrichosis, or a subtype of Marie Unna congenital hypotrichosis, affects less than 200,000 people in the US population.
They list Marie Unna congenital hypotrichosis as a "rare disease".
www.wrongdiagnosis.com /medical/marie_unna_congenital_hypotrichosis.htm   (207 words)

  
 alopecia areata - congenital alopecia areata
This study however quotes the prevalence of alopecia areata in infants as a congenital condition - in other words, when the alopecia areata is present from birth.
Except for some hair growth in her brows and lashes, there was not much change in her condition.
Since previous reports of congenital alopecia areata have indicated the condition to be caused possibly by premature birth, the above case studies are good examples of classic congenital alopecia areata.
hairgrowthnews.com /alopecia-areata/alopecia-areata-congenital.shtml   (678 words)

  
 Partly Mapped Human Disease Genes
Acheiropodia is an autosomal recessive developmental disorder presenting with bilateral congenital amputations of the upper and lower extremities and aplasia of the hands and feet.
3-phosphoglycerate dehydrogenase (PHGDH) deficiency is a disorder of L-serine biosynthesis that is characterized by congenital microcephaly, psychomotor retardation, and seizures.
An autosomal dominant congenital myopathy with cores and rods is associated with a neomutation in the RYR1 gene encoding the skeletal muscle ryanodine receptor.
www.mad-cow.org /00/human_inherited.html   (5596 words)

  
 diagnosis - hypotrichosis table
Many of these conditions involving hypotrichosis as a secondary symptom are ectodermal dysplasias.
The clinical distinction between alopecia and hypotrichosis is that alopecia involves hair growth that is later lost.
Hypotrichosis is a lack of any hair growth.
www.keratin.com /ab/ab005.shtml   (345 words)

  
 Pili torti et canaliculi and agenesis of the teeth: report of a new "pure" hair-tooth ectodermal dysplasia in a ...
Congenital absence of teeth is most probably autosomal dominantly inherited.
Congenital pili torti et canaliculi is a hair shaft abnormality that has previously been described in Marie Unna hypotrichosis,
Hypotrichosis congenita hereditaria Marie Unna mit Ehlers-Danlos-Syndrom und Atopie.
jmg.bmjjournals.com /cgi/content/full/37/9/721   (1050 words)

  
 European Hair Research Society - Conference
Localization of the gene for hypotrichosis congenita Marie Unna - linkage analysis and contig construction
Human nude-ity exposed: a nonsense mutation in the WHN gene underlies congenital alopecia and nail dystrophy with severeT-cell immunodeficiency
Congenital atrichia in a Palestinian patient resulting from a mutation in the human hairless gene
www.ehrs.org /conference/2000marburg/sunday.htm   (282 words)

  
 Keratodermas
The symptoms consisted of diffuse transgrediens palmoplantar keratoderma and keratotic plaques around the mouth and nose.
Our patient also had the associated anomalies of hyperhidrosis of the palms and soles and congenital deaf-mutism.
Histopathologic study of the keratoderma demonstrated epidermal hyperplasia with acanthosis, papillomatosis, and orthokeratotic hyperkeratosis.
www.thedoctorsdoctor.com /diseases/keratodermas.htm   (1421 words)

  
 IngentaConnect Table Of Contents: Clinical & Experimental Dermatology   (Site not responding. Last check: 2007-10-26)
Marie Unna hereditary hypotrichosis: report of a Chinese family and evidence for genetic heterogeneity
Multiple congenital melanocytic naevi presenting with neurofibroma-like lesions complicated by malignant melanoma
Topical imidazoquinoline therapy of cutaneous squamous cell carcinoma polarizes lymphoid and monocyte/macrophage populations to a Th1 and M1 cytokine pattern
www.ingentaconnect.com /content/bsc/ced/2004/00000029/00000005   (500 words)

  
 List of diseases starting with M - Wikipedia, the free encyclopedia
Motor sensory neuropathy type 1 aplasia cutis congenita
Multiple congenital anomalies mental retardation, growth failure and cleft lip palate
Muscular dystrophy limb girdle type 2A, Erb type
en.wikipedia.org /wiki/List_of_rare_diseases/M   (168 words)

  
 pSTIING - Search
Adrenal hyperplasia, congenital, due to combined P450C17 and P450C21 deficiency
Congenital disorder of glycosylation, type II Congenital disorder of glycosylation, type IIc
Congenital hereditary endothelial dystrophy of cornea, autosomal recessive
pstiing.licr.org /search.jsp?script=a_start_disease&...   (546 words)

  
 DermIS - Ectodermal Dysplasia (information on the diagnosis)
Hypotrichosis Congenita Hereditaria Marie Unna (0)Aplasia Cutis Congenita Circumscripta (11)
A group of hereditary disorders involving tissues and structures derived from the embryonic ectoderm.
Congenital ectodermal defect, Congenital Ectodermal Defects, Congenital ectodermal dysplasia, Defect, Congenital Ectodermal, Defect, ectodermal, congenital, Defects, Congenital Ectodermal, Dysplasia, ectodermal, Dysplasia, ectodermal congenital, Dysplasias, Ectodermal, Ectodermal Defect, Congenital, Ectodermal Defects, Congenital, Ectodermal Dysplasia, Ectodermal dysplasia, congenital, Ectodermal dysplasia, NOS, Ectodermal Dysplasias
dermis.multimedica.de /pedoia/en/41759/diagnose.htm   (115 words)

  
 The Alopecia's & other related conditions
Learn more about the causes and treatments of Childhood Alopecia.
Conditions covered: congenital Alopecia, total Alopecia, hypotrichosis, marie-unna syndrome, Alopecia areata, Trichotillomania, and loose anagen syndrome.
Read about this condition, which is characterized by small or large patches of loss on the scalp
www.hairlosstalk.com /research/alopecias   (364 words)

  
 Diseases Table
Congenital cataract, facial dysmorphism, and neuropathy syndrome [See candidates] Locuslink:50984 OMIM:604168
Congenital dyserythropoietic anemia II [See candidates] Locuslink:980 OMIM:224100
Hypotrichosis, Marie Unna type [See candidates] Locuslink:50823 OMIM:146550
dove.embl-heidelberg.de /g2d/table0.html   (2990 words)

  
 Epigenhome   (Site not responding. Last check: 2007-10-26)
53 Carter JM, McLean WHI, West S and Quinlan RA (2000) Mapping of the human CP49 gene and identification of an intragenic polymorphic marker to allow genetic linkage analysis in autosomal dominant congenital cataract.
68 Kremer H, Lavrijsen APM, McLean WHI, Lane EB, Melchers D, Ruiter DJ, Mariman ECM, Steijlen PM (1998) An atypical form of bullous congenital ichthyosiform erythroderma is caused by a mutation in the L12 linker region of keratin 1.
80 Pulkinnen L, Kimonis VE, Xu Y, Spanou EN, McLean WHI and Uitto J (1997) Homozygous a6 integrin mutation in junctional epidermolysis bullosa with congenital duodenal atresia.
www.humangenetics.org.uk /egg_publications.html   (3569 words)

  
 OMIM Update List for March, 2004
Clinical Synopsis for 608264 DEAFNESS, CONGENITAL NEUROSENSORY, AUTOSOMAL RECESSIVE 40; DFNB40
Clinical Synopsis for 608265 DEAFNESS, CONGENITAL NEUROSENSORY, AUTOSOMAL RECESSIVE 39; DFNB39
607674 CATARACT, CONGENITAL, WITH MENTAL IMPAIRMENT AND DENTATE GYRUS ATROPHY
www.ncbi.nlm.nih.gov /Omim/dispmonthly.cgi?3.2004   (2183 words)

  
 Disease, medication, symptom etc database index : M Diseases Database   (Site not responding. Last check: 2007-10-26)
Multiple contracture syndrome, Finnish type see Lethal congenital contracture syndrome
Muscle phosphoglycerate mutase deficiency see Phosphogylcerate mutase 2 deficiency
Myasthenia gravis, inherited see Congenital slow-channel myasthenic syndromes
www.diseasesdatabase.com /disease_index_m.asp   (515 words)

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