Presentation
The information presented is not intended to replace medical advice or treatment from your own doctor or healthcare provider. [wellnessadvocate.com]
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]
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
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Nail Abnormality
Many patients are not diagnosed until infancy or childhood, when dental anomalies, nail abnormalities, or alopecia become apparent. AEC or Hay-Wells syndrome may manifest at birth as ankyloblepharon in association chronic scalp erosions. [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
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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]
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]
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]
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 PubMed ID 1577604 TY - JOUR T1 - [Hidrotic ectodermal dysplasia [unboundmedicine.com]
Neurologic
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Spastic Quadriplegia
HEARING LOSS, RETINITIS PIGMENTOSA, AND DISTINCTIVE FACIES Short Stature, Onychodysplasia, Facial Dysmorphism, and Hypotrichosis short-rib thoracic dysplasia 9 with or without polydactyly Sjogren-Larsson syndrome Skin Fragility-Woolly Hair Syndrome Spastic [rgd.mcw.edu]
Workup
Serum
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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 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]
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]
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]
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
Smith's Recognizable Patterns of Human Malformation has long been known as the source to consult on multiple malformation syndromes of environmental and genetic etiology as well as recognizable disorders of unknown cause. [chapters.indigo.ca]
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
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]
[…] which involves ectodysplasin (EDA), the EDR receptor (EDAR), the EDAR-associated death domain (EDARADD); the WNT signaling pathway; the NF-kB signally pathway, which involves the NF-kB essential modulator (NEMO); and the transcription factor p63. [14] Epidemiology [emedicine.medscape.com]
Community Dentistry and Oral Epidemiology. 1987, 15: 218-20. 10.1111/j.1600-0528.1987.tb00524.x. [head-face-med.biomedcentral.com]
J Egypt Med Assoc 64:35–49 Google Scholar Mohamed MS (1995) An epidemiological study on consanguineous marriage among urban population in Alexandria. [link.springer.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]