Presentation
Strikingly, she presented titles of antinuclear antibodies of 1/40 in summer (with no lesions) and of 1/640 in winter (with skin lesions). [kundoc.com]
The information presented is not intended to replace medical advice or treatment from your own doctor or healthcare provider. [wellnessadvocate.com]
ORPHA:2718 Synonym(s): Cecato de Lima-Pinheiro syndrome Prevalence: Inheritance: Autosomal recessive Age of onset: Childhood ICD-10: - OMIM: 257960 UMLS: C1850332 MeSH: - GARD: - MedDRA: - The documents contained in this web site are presented for information [orpha.net]
Patients present with short stature. [accessanesthesiology.mhmedical.com]
Entire Body System
- Nail Abnormality
Dental defects: Abnormal morphogenesis or absence of teeth as well as enamel defects may occur. [13] Nail dystrophy: Abnormal nail plate formation may result in brittle, thin, ridged, or grossly deformed nails. [emedicine.medscape.com]
N ¼ 2 Adermatoglyphia with congenital facial milia and acral blisters, digital contractures, and nail abnormalities (ED, absent dermatoglyphic pattern, changes in nails, and simian crease) Pachyonychia congenita, autosomal recessive Reference (OMIM, whenever [docksci.com]
Skin
- Alopecia
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. The distinction between alopecia and hypotrichosis is not clear cut for many disorders. [keratin.com]
eclabion, ectropion, and mental retardation Lymphedema-hypoparathyroidism syndrome Monilethrix Onychotrichodysplasia and neutropenia Palmoplantar keratoderma and congenital alopecia, autosomal dominant (alopecia congenita with keratosis palmoplantaris [docksci.com]
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]
Causes of the condition may include: 1 Causes of Carious Teeth : 22q11.2 Deletion Syndrome 48, XXXY Syndrome 48, XXYY Syndrome 49, XXXXY Syndrome Acrofacial Dysostosis, Catania Type Albers-Schonberg Osteopetrosis Alopecia-Contractures-Dwarfism Mental [familydiagnosis.com]
Authors +Show Affiliations, Universitäts-Hautklinik Jena., Source MeSH Adult Alopecia Biopsy Ectodermal Dysplasia Female Hair Humans Immunoenzyme Techniques Kyphosis Skin Syndrome Pub Type(s) Case Reports English Abstract Journal Article Language ger [unboundmedicine.com]
- Coarseness of the Skin
Syndrome Pedal Onychogryposis with Keratosis Plantaris and Coarse Hair peeling skin syndrome + Perifolliculitis Capitis Abscedens Et Suffodiens, Familial Peripheral Cone Dystrophy PHARC syndrome Photosensitive Trichothiodystrophy 1 Pigmentary Retinopathy [rgd.mcw.edu]
Workup
Serum
- Microcytosis
[…] retinitis pigmentosa 77 Retinitis Pigmentosa 78 Retinitis Pigmentosa 79 Retinitis Pigmentosa 80 retinitis pigmentosa 81 Retinitis Pigmentosa 83 Retinitis Pigmentosa 84 Retinitis Pigmentosa 85 retinitis pigmentosa 9 RETINITIS PIGMENTOSA AND ERYTHROCYTIC MICROCYTOSIS [rgd.mcw.edu]
Treatment
The information presented is not intended to replace medical advice or treatment from your own doctor or healthcare provider. [wellnessadvocate.com]
The Exfoliating Treatment Mask is the perfect TULA product to help reduce acne scars and create an even skin tone. may require a prescription-strength topical treatment (i.e. benzoyl peroxide cream: 10%). [studiodf.eu]
The lesions disappear spontaneously and totally, with no treatment, when the summer comes. She has been suffering from this condition since her first year of life. A biopsy specimen revealed finding consistent with LE. [kundoc.com]
Treatment - Cecato De lima Pinheiro syndrome Not supplied. Resources - Cecato De lima Pinheiro syndrome Not supplied. [checkorphan.org]
Prognosis
Prognosis - Cecato De lima Pinheiro syndrome Not supplied. Treatment - Cecato De lima Pinheiro syndrome Not supplied. Resources - Cecato De lima Pinheiro syndrome Not supplied. [checkorphan.org]
Subtypes of frontonasal dysplasia are useful in determining clinical prognosis. Am J Med Genet A. 2007 Dec 15; 143A(24):3069-78. PMID: 17955515. View in: PubMed Hsieh EW, Yeh RF, Oberoi S, Vargervik K, Slavotinek AM. [profiles.ucsf.edu]
Dtsch Zahnarztl Z 21:608–614 PubMed Google Scholar Ezzat MH, Awwad KS, Shaheen KY, Abdel-Wahab SM, Osman TI (2005) The influence of HLA-DRB1 alleles on polyarticular onset juvenile rheumatoid arthritis susceptibility, severity, and prognosis. [link.springer.com]
Etiology
[…] title Tricho-oculo-dermo-vertebral syndrome Synonyms Ectodermal dysplasia-cataracts-kyphoscoliosis syndrome_x000D_ Alves-dos Santos-Castelo syndrome Name in a foreign language - Inheritance Autosomal recessive CONTENT INFORMATION Textual description Etiology [retkebolesti.com]
Both genetic and environmental factors are involved in the complex etiology of microdontia. Genetic factors probably play a role in the formation of microdontia. [head-face-med.biomedcentral.com]
The occurrence of these anomalies is probably incidental as the conditions are etiologically unrelated. [jnsbm.org]
Swarr’s research is to improve our understanding of the etiology and pathogenesis of congenital malformations and pulmonary disease using a wide variety of tools from developmental biology, genetics and epigenetics. [cincinnatichildrens.org]
Their enormous clinical variability and their etiological heterogeneity may result in difficulties for the establishment of a syndromic diagnosis. [docksci.com]
Epidemiology
[…] dysplasia-cataracts-kyphoscoliosis syndrome_x000D_ Alves-dos Santos-Castelo syndrome Name in a foreign language - Inheritance Autosomal recessive CONTENT INFORMATION Textual description Etiology Forecast Differential diagnosis Treatment Diagnostic methods Antenatal diagnosis Epidemiology [retkebolesti.com]
"Blood Pressure" [SH] (epidemiology AND humans) [SH] SI Secondary Source ID The SI field identifies secondary source databanks and accession numbers, e.g., GenBank, GEO, PubChem, ClinicalTrials.gov, ISRCTN. [biomedsearch.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]
Epidemiological aspects of Paget's disease: family history and relationship to other medical conditions. Semin Arthritis Rheum 1994; 23: 222-5 Smith DL, Smith JG, Wong SW, deShazo RD. [arthritisresearch.us]
Vitiligo: Compendium of clinico-epidemiological features. Indian J Dermatol Venereol Leprol 2007;73:149-56. [Google Scholar] 66. Margolis DJ, Weinberg JM, Tangoren IA, Cheney RT, Johnson BL Jr. Trichophytic granuloma of the vulva. [ijdvl.com]
Pathophysiology
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]
Pathophysiology Ectodermal dysplasia results from the abnormal morphogenesis of cutaneous or oral embryonal ectoderm (ie, hair, nails, teeth, eccrine glands). In some forms, mesodermal abnormalities are also present. [emedicine.medscape.com]
Prevention
Prevention - Cecato De lima Pinheiro syndrome Not supplied. Diagnosis - Cecato De lima Pinheiro syndrome signs and symptoms of Oculo tricho dysplasia may vary on an individual basis for each patient. [checkorphan.org]
And are not intended to diagnose, treat, cure or prevent disease. The information presented is not intended to replace medical advice or treatment from your own doctor or healthcare provider. [wellnessadvocate.com]
Your skin Holds body fluids in, preventing dehydration Keeps harmful microbes out, preventing infections Helps you feel things like heat, cold, and pain Keeps your body temperature even Makes vitamin D when the sun shines on it Anything that irritates [icdlist.com]