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]

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]

• Disability

  Patients carrying othermutations in CDH3 demonstrated hair morphologic abnormal-ities or had normal hair microscopic examination (Table I).Widevariations in age of onset and degree of visual disability were ob-served among patients, even when carrying [documents.tips]

• Asymptomatic

  The identi-cation of asymptomatic macular damage in family 5 patientssuggests that ophthalmologic examination should become anintegral part of the diagnostic work-up of patients presentingwith recessive hypotrichosis.Figure1. [documents.tips]

• Visual Impairment

  Hypotrichosis with juvenile macular dystrophy (HJMD) is an autosomal recessive disorder that causes childhood visual impairment. [ncbi.nlm.nih.gov]

  Apply all the latest clinical advances through updated coverage of strabismus diagnosis, management and complications; retinal dystrophies; imaging & investigation; AIDS in children; developmental biology; cerebral visual impairment; child abuse; severe [books.google.com]

  In early childhood, Leber congenital amaurosis and achromatopsia are two types of congenital retinal dystrophies that overlap clinically, both presenting with visual impairment and nystagmus [ 3 ]. [mdpi.com]

  Abstract Hypotrichosis with juvenile macular dystrophy (HJMD) is an autosomal recessive disorder that causes childhood visual impairment. [nature.com]

  However, at the age of 7 years, he was found to have visual disturbance, and, at 10 years 9 months, VEP and ERG revealed unilateral neural optic dysfunction of the right eye and unilateral retinal impairment in the left eye. [karger.com]

• Visual Impairment

  Hypotrichosis with juvenile macular dystrophy (HJMD) is an autosomal recessive disorder that causes childhood visual impairment. [ncbi.nlm.nih.gov]

  Apply all the latest clinical advances through updated coverage of strabismus diagnosis, management and complications; retinal dystrophies; imaging & investigation; AIDS in children; developmental biology; cerebral visual impairment; child abuse; severe [books.google.com]

  In early childhood, Leber congenital amaurosis and achromatopsia are two types of congenital retinal dystrophies that overlap clinically, both presenting with visual impairment and nystagmus [ 3 ]. [mdpi.com]

  Abstract Hypotrichosis with juvenile macular dystrophy (HJMD) is an autosomal recessive disorder that causes childhood visual impairment. [nature.com]

  However, at the age of 7 years, he was found to have visual disturbance, and, at 10 years 9 months, VEP and ERG revealed unilateral neural optic dysfunction of the right eye and unilateral retinal impairment in the left eye. [karger.com]

• Aniridia

  Development of aniridia is linked with nonsense mutations that result in paired box 6 ( PAX6 ) haploinsufficiency. [pubmedcentral.nih.gov]

  Based on this study in a directly relevant animal model, we would advocate the initiation of clinical trials for a nonsense suppression paradigm in aniridia. [doi.org]

• 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]

• Macula

  Despite the name of the disorder, this condition has the potential to affect the entire back of the eye (retina), not just the macula. [resourcerepository.org]

  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]

  Format Definition A disorder characterized by congenital hypotrichosis, early hair loss, and severe degenerative changes of the retinal macula that culminate in blindness during the second to third decade of life. [uniprot.org]

  UniProtKB/Swiss-Prot : 76 Hypotrichosis congenital with juvenile macular dystrophy: A disorder characterized by congenital hypotrichosis, early hair loss, and severe degenerative changes of the retinal macula that culminate in blindness during the second [malacards.org]

  Longitudinal in vivo imaging of the retina showed the relative anatomical preservation of the macula, which suggested the presence of a therapeutic window for gene augmentation therapy to preserve visual acuity. [ncbi.nlm.nih.gov]

• 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]

  R503H (Fig. 6A), representing the missense mutation in CDH3, found ... cancerres.aacrjournals.org / cgi/content/full/64/22/8309 Alopecia Not all hair loss is permanent and certainly not all forms are hereditary. ... shown that mutations in the CDH3 gene [evidence.pgp-hms.org]

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

  2 Palmoplantar Keratoderma and Congenital Alopecia, Autosomal Dominant Papillon-Lefevre Syndrome Pili Torti and Developmental Delay Pilodental Dysplasia with Refractive Errors Poikiloderma with Neutropenia Polyposis, Skin Pigmentation, Alopecia, and [nfed.org]

• Erythema

  […] this area of erythema. [docslide.com.br]

  Epidermolysis Bullosa Simplex with Migratory Circinate Erythema Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Epidermolysis Bullosa Simplex with Migratory Circinate Erythema from the curated CTD Gene-Disease Associations [amp.pharm.mssm.edu]

  GJB2, encoding connexin 26. 48, 59 Hypotrichosis with hereditary mucoepithelial dysplasia Hereditary mucoepithelial dysplasia is a dominantly inherited disease characterized by congenital nonscarring hypotrichosis with coarse abnormal hair, gingival erythema [plasticsurgerykey.com]

  […] type The Dermatological report stated absence of growing hair since the 1 st year of age, pale skin, sparse scalp hair, punctiform follicular keratosis on cheeks, forehead, eyebrows and anterior surface of the arms and posterior surface of the legs, erythema [bmcmedgenet.biomedcentral.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]

Figure 1 Postnatal treatment of Pax6 mice with ataluren. ( A ) Effect of systemic ataluren treatment on mice with the Pax6 Sey+/– phenotype. [doi.org]

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

Postnatal treatment of Pax6 mice with ataluren. ( A ) Effect of systemic ataluren treatment on mice with the Pax6 Sey+/– phenotype. [pubmedcentral.nih.gov]

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

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]

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]

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]

Moreover, the expression of P-cadherin and CEBPB were highly associated in human breast carcinomas and linked with a worse prognosis in breast cancer patients. [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]

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]

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]

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]

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]