Medical condition
Restrictive dermopathy Other names Hyperkeratosis-contracture syndrome, Lethal restrictive dermopathy Restrictive dermopathy is inherited in an autosomal recessive manner[1] Specialty Medical genetics
Restrictive dermopathy (RD) is a rare, lethal autosomal recessive skin condition characterized by syndromic facies, tight skin, sparse or absent eyelashes, and secondary joint changes.[2] : 563
^ "OMIM Entry - # 275210 - RESTRICTIVE DERMOPATHY, LETHAL". omim.org . Retrieved 7 August 2017 .
^ James, William; Berger, Timothy; Elston, Dirk (2005). Andrews' Diseases of the Skin: Clinical Dermatology . (10th ed.). Saunders. ISBN 0-7216-2921-0.
Last Update: 2023-12-03T17:06:01Z
Restrictive dermopathy (RD) is a rare, lethal autosomal recessive skin condition characterized by syndromic facies, tight skin, sparse or absent eyelashes...
Word Count : 196
Last Update: 2022-05-02T10:26:16Z
fibrosing dermopathy (NFD) Restrictive dermopathy This disambiguation page lists articles associated with the title Dermopathy . If an internal link led...
Word Count : 52
Last Update: 2024-06-03T06:14:54Z
(TTD), combined xeroderma pigmentosum-Cockayne syndrome (XP-CS), restrictive dermopathy (RD), and Hutchinson–Gilford progeria syndrome (HGPS). Individuals...
Word Count : 8726
Last Update: 2024-05-24T14:48:27Z
Renfield syndrome Renpenning's syndrome Restless legs syndrome Restrictive dermopathy Retinoic acid syndrome Retirement syndrome Rett syndrome Reversible...
Word Count : 4052
Last Update: 2024-03-24T23:59:20Z
and marfanoid aspect-lipodystrophy syndrome Prolidase deficiency Restrictive dermopathy 2 Rienhoff syndrome Ritscher-Schinzel syndrome 4 Roberts-SC phocomelia...
Word Count : 1097
Last Update: 2024-05-02T21:18:00Z
format, a markup language used for documentation of Ruby programs Restrictive dermopathy Reading disability, a condition resulting primarily from neurological...
Word Count : 376
Last Update: 2024-04-26T23:07:12Z
Pyknodysostosis RAB23-related Carpenter syndrome Renpenning syndrome Restrictive dermopathy 1 RFT1-congenital disorder of glycosylation Rhizomelic chondrodysplasia...
Word Count : 1343
Last Update: 2024-06-09T02:37:50Z
syndromes DNA repair Lamin A/C Hutchinson–Gilford progeria syndrome Restrictive dermopathy Other/related disorders Li–Fraumeni syndrome Rapadilino syndrome...
Word Count : 4303
Last Update: 2024-06-10T07:56:20Z
pigmentosum Trichothiodystrophy Xeroderma pigmentosum-Cockayne syndrome Restrictive dermopathy Mandibuloacral dysplasia Fanconi anaemia Seckel syndrome Ataxia...
Word Count : 6395
Last Update: 2024-05-31T15:22:11Z
syndromes DNA repair Lamin A/C Hutchinson–Gilford progeria syndrome Restrictive dermopathy Other/related disorders Li–Fraumeni syndrome Rapadilino syndrome...
Word Count : 6094
Last Update: 2024-05-23T01:57:54Z
syndromes DNA repair Lamin A/C Hutchinson–Gilford progeria syndrome Restrictive dermopathy Other/related disorders Li–Fraumeni syndrome Rapadilino syndrome...
Word Count : 2997
Last Update: 2024-05-19T06:05:11Z
dystrophy - A muscle wasting disease Progeria - Premature aging Restrictive dermopathy - A disease associated with extremely tight skin and other severe...
Word Count : 1862
Last Update: 2024-06-11T22:57:55Z
syndromes DNA repair Lamin A/C Hutchinson–Gilford progeria syndrome Restrictive dermopathy Other/related disorders Li–Fraumeni syndrome Rapadilino syndrome...
Word Count : 2759
Last Update: 2024-01-01T22:40:50Z
syndromes DNA repair Lamin A/C Hutchinson–Gilford progeria syndrome Restrictive dermopathy Other/related disorders Li–Fraumeni syndrome Rapadilino syndrome...
Word Count : 3089
Last Update: 2024-05-20T06:42:22Z
progeroid appearance, and generalized lipodystrophy to infant-lethal restrictive dermopathy .[citation needed] In the case of autosomal dominant leukodystrophy...
Word Count : 3382
Last Update: 2024-05-16T12:52:42Z
acid storage disease) Relapsing linear acantholytic dermatosis Restrictive dermopathy Rhizomelic chondrodysplasia punctata (autosomal recessive chondrodysplasia...
Word Count : 17977
Last Update: 2022-10-17T21:35:23Z
syndromes DNA repair Lamin A/C Hutchinson–Gilford progeria syndrome Restrictive dermopathy Other/related disorders Li–Fraumeni syndrome Rapadilino syndrome...
Word Count : 1036
Last Update: 2024-04-10T18:09:32Z
syndromes DNA repair Lamin A/C Hutchinson–Gilford progeria syndrome Restrictive dermopathy Other/related disorders Li–Fraumeni syndrome Rapadilino syndrome...
Word Count : 2732
Last Update: 2024-05-09T15:43:25Z
dysplasia; 208540; NPHP3 Renpenning syndrome; 309500; PQBP1 Restrictive dermopathy , lethal; 275210; ZMPSTE24 Reticular dysgenesis; 267500; AK2 Retinal...
Word Count : 18877
Last Update: 2022-09-17T02:46:19Z
pigmentosa XPG DNA endonuclease Xeroderma pigmentosa Xeroderma pigmentosum–Cockayne syndrome ZMPSTE24 Köbberling–Dunnigan syndrome Restrictive dermopathy ...
Word Count : 108
Last Update: 2024-01-21T01:41:43Z
syndromes DNA repair Lamin A/C Hutchinson–Gilford progeria syndrome Restrictive dermopathy Other/related disorders Li–Fraumeni syndrome Rapadilino syndrome...
Word Count : 905
Last Update: 2024-06-08T11:13:49Z
Unexplained Dermopathy Study, Team (2012). "Clinical, Epidemiologic, Histopathologic and Molecular Features of an Unexplained Dermopathy ". PLOS ONE. 7...
Word Count : 38868