RESULTS: All 10 patients (7 male and 3 female) presented with central visual disturbance in childhood and had lifelong sparse scalp hair with normal facial hair. [ncbi.nlm.nih.gov]

Clinical description HJMD patients present with short and sparse scalp hair since birth or first months of life, with no subsequent growth during life. [orpha.net]

We present a new case of Hypotrichosis with Juvenile Macular Dystrophy. [bmcmedgenet.biomedcentral.com]

• Retinal Pigmentation

  We put forward arguments for locating the retinal alteration at the level of the retinal pigment epithelium and suggest that the hair disorder could be a Marie-Unna type hypotrichosis. [ncbi.nlm.nih.gov]

  Moreover, P-cadherin is expressed in the retinal pigment epithelium. Diagnostic methods Diagnosis is based on the combined occurrence of hypotrichosis with characteristic degenerative changes and pigmentary abnormalities of the macula on fundoscopy. [orpha.net]

• Visual Acuity Decreased

  A decade later, during the first to third decades of life, visual acuity decreases because of progressive macular degeneration, leading in many cases to blindness between the second and fourth decades of life. [orpha.net]

  Visual acuity decreases slowly in spite of significant deterioration of cone- and rod-mediated retinal function. [disorders.eyes.arizona.edu]

• Retinal Damage

  The extent of retinal damage is assessed by fluorescent angiography, retinal scanning and optical coherence tomography; electrophysiological examinations such as electroretinography (ERG) or multifocal electroretinography (mfERG) may also be used. [en.wikipedia.org]

  Hypotrichosis with juvenile macular dystrophy: Examination method The extent of retinal damage is assessed by fluorescent angiography, retinal scanning and optical coherence tomography ; electrophysiological examinations such as electroretinography (ERG [maria-online.com]

• Alopecia

  Retinal dystrophy combined with alopecia, Aeta Optithalmotogica 1975; 53: 781-789. 8. Cowan CL Jr, Grimes PE, Chakrabarti S, Minus HR. Kenney. JA Jr. Retinitis Pigmentosa associated with hearing loss, thyroid disease vitiligo and alopecia areata. [docksci.com]

  The hair phenotype does not improve significantly with age, even though diffuse alopecia in infancy can evolve towards short and sparse hair in puberty. Etiology HJMD is caused by mutations in the CDH3 gene (16q22.1), encoding P-cadherin. [orpha.net]

  Smith MA, Wells RS: Male-type alopecia, alopecia areata, and normal hair in women; family histories. Arch Dermatol 1964;89:95-98. [karger.com]

  Retinal dystrophy combined with alopecia. Acta Ophthalmol (Copenh). 1975;53:781–9. CrossRef Google Scholar 3. Balarin Silva V, Simoes AM, Marques-de-Faria AP. EEM syndrome: report of a family and results of a ten-year follow-up. [link.springer.com]

• Sparse Scalp Hair from Birth

  Entry H00785 Disease Name Congenital hypotrichosis with juvenile macular dystrophy Description Hypotrichosis with juvenile macular dystrophy is a rare autosomal recessive disorder characterized by sparse scalp hair from birth and resulting hair loss associated [genome.jp]

  HJMD has been described as macular degeneration and short sparse scalp hair from birth with hair loss during the first months of life [ 5 ]. The retinal phenotype is nowadays being re-evaluated. [bmcmedgenet.biomedcentral.com]

• Average Intelligence

  No other ectodermal abnormalities bave been detected and sbe is of average intelligence. Her brotber, now aged 26 years has generalized abnormal wiry hair but bas experienced minimal scalp alopecia. [docksci.com]

The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment. [orpha.net]

Although there are no specific treatments for this disorder, general vision aids may be helpful. If you or a loved one has been diagnosed with HJMD, contact your doctor to discuss the possible treatment options available. [resourcerepository.org]

Treatment Treatment Options: No treatment is available for this disease. [disorders.eyes.arizona.edu]

It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. Our staff consists of biologists and biochemists that are not trained to give medical advice . [uniprot.org]

Systemic aminoglycoside treatment in rodent models of retinitis pigmentosa. Experimental Eye Research 87, 197 – 207. Hainrichson, M., Nudelman, I. & Baasov, T. ( 2008 ). [doi.org]

Prognosis The most severe complication of HJMD is progressive macular degeneration leading to blindness between the second and fourth decades of life. [orpha.net]

Cell adhesion molecule Protein interactions : Tissue (According to GeneNote, PubMed, HPA ) Tissue expression: PubMed Reference Human Protein Atlas (HPA): HPA001767 Clinical (According to OMIM, PubMed ) OMIM : 114021 PubMed: Early detection Diagnosis Prognosis [actrec.gov.in]

Diagnosis - Juvenile macular degeneration and hypotrichosis * Home Eye Tests * Home Vision Tests Prognosis - Juvenile macular degeneration and hypotrichosis Not supplied. Treatment - Juvenile macular degeneration and hypotrichosis Not supplied. [checkorphan.org]

In breast cancer, P-cadherin is frequently overexpressed in high-grade tumours and is a well-established indicator of aggressive tumour behaviour and poor patient prognosis. [journals.plos.org]

[…] the CDH3 gene encoding P-cadherin underlying hypotrichosis with juvenile macular dystrophy in consanguineous families. findings suggest that E-cadherin and P-cadherin, but not N-cadherin staining, might be useful in diagnosing CIN and for predicting prognosis [ncbi.nlm.nih.gov]

These results establish the molecular etiology of HJMD and implicate for the first time a cadherin molecule in the pathogenesis of a human hair and retinal disorder. [ncbi.nlm.nih.gov]

Etiology HJMD is caused by mutations in the CDH3 gene (16q22.1), encoding P-cadherin. P-cadherin is part of adherens junctions in various epithelia including the hair follicular epithelium. [orpha.net]

Lyons, both globally recognized leaders, provide authoritative coverage of all the pediatric ophthalmic conditions you’re likely to encounter in practice, including the latest clinical advances in etiology, diagnosis, and medical and surgical management [books.google.com]

Congenital hypotrichosis and Stargardt macular dystrophy are rare autosomal recessive disorder of unknown etiology respectively characterized by hair loss, macular degeneration and severe progressive vision reduction. Showing page 1. [glosbe.com]

Summary Epidemiology Prevalence is unknown but approximately 50 patients have been described since the first characterization of the syndrome in 1935. [orpha.net]

Relevant External Links for CDH3 Genetic Association Database (GAD) CDH3 Human Genome Epidemiology (HuGE) Navigator CDH3 Atlas of Genetics and Cytogenetics in Oncology and Haematology: CDH3 No data available for Genatlas for CDH3 Gene A missense mutation [genecards.org]

Xiao FL, Yang S, Liu JB, et al: The epidemiology of childhood alopecia areata in China: a study of 226 patients. Pediatr Dermatol 2006;23:13-18. [karger.com]

The entry for each disease includes its epidemiology, laboratory findings, genetics, pathogenesis, cutaneous and extracutaneous findings, differential diagnosis, disease course, complications, and follow-up and therapy, where appropriate. [routledge.com]

CONCLUSIONS: Retinal carotenoids can be measured in epidemiologic studies [47]. References ATP-binding cassette transporters in bacteria. Davidson, A.L., Chen, J. Annu. Rev. [wikigenes.org]

IRCCS Ca' Granda - Ospedale Maggiore Policlinico, University of Milan, Italy Michela Brena, MD,Post-Graduate School of Dermatology and Venereology, University of Milan, Italy Carlo Gelmetti, MD,chairman of the Pediatric Dermatology Unit, Department of Pathophysiology [routledge.com]

Our data establish recessive mutations in CDH3 as the molecular cause of hypotrichosis with juvenile macular dystrophy and expand our understanding of the pathophysiology of this intriguing disorder [13]. [wikigenes.org]

Rapidly find the answers you need with separate sections on diseases and disorders, differential diagnosis, clinical algorithms, laboratory results, and clinical preventive services, plus an at-a-glance format that uses cross-references, outlines, bullets [books.google.com]

TSL:3 CDH3-205 ENST00000566808.2 573 73aa ENSP00000462111 - J3KRQ1 - 5' truncation in transcript evidence prevents annotation of the start of the CDS. [ensembl.org]

We present a case of HJMD and analyse its phenotypic and molecular characteristics to assess the potential for retinal gene therapy as a means of preventing severe visual loss in this condition. [ncbi.nlm.nih.gov]

The subject compositions are useful for treating and preventing ophthalmic diseases and disorders, including age-related macular degeneration (AMD) and Stargardt's Disease. [glosbe.com]