Reticulolinear aplasia cutis congenita of the face and neck: a distinctive cutaneous manifestation in several syndromes linked to Xp22 - PubMed (original) (raw)
Review
Reticulolinear aplasia cutis congenita of the face and neck: a distinctive cutaneous manifestation in several syndromes linked to Xp22
A Zvulunov et al. Br J Dermatol. 1998 Jun.
Abstract
A distinct form of aplasia cutis congenita presenting as linear facial skin defects has been described under a variety of names as Xp deletion syndrome. MIDAS (microphthalmia, dermal aplasia and sclerocornea) syndrome, MLS (microphthalmia and linear skin defects) and Gazali-Temple syndrome. The syndrome is lethal in males, and its severity in females varies from a relatively mild residual facial scarring with short stature to lethal developmental organ malformations. A new case with peculiar ultrastructural findings is presented. A review of the literature suggests that these associations represent a series of contiguous-gene syndromes.
Similar articles
- Frequent Occurrence of Aplasia Cutis Congenita in Bullous Dermolysis of the Newborn.
Diociaiuti A, Castiglia D, Giancristoforo S, Guerra L, Proto V, Dotta A, Boldrini R, Zambruno G, El Hachem M. Diociaiuti A, et al. Acta Derm Venereol. 2016 Aug 23;96(6):784-7. doi: 10.2340/00015555-2364. Acta Derm Venereol. 2016. PMID: 26864810 - Bullous aplasia cutis congenita.
Colon-Fontanez F, Fallon Friedlander S, Newbury R, Eichenfield LF. Colon-Fontanez F, et al. J Am Acad Dermatol. 2003 May;48(5 Suppl):S95-8. doi: 10.1067/mjd.2003.150. J Am Acad Dermatol. 2003. PMID: 12734490 Review. - Dermatoscopic aspects of the microphthalmia with linear skin defects (MLS) syndrome.
Almeida HL Jr, Rossi G, Abreu LB, Bergamaschi C, Silva AB, Kutsche K. Almeida HL Jr, et al. An Bras Dermatol. 2014 Jan-Feb;89(1):180-1. doi: 10.1590/abd1806-4841.20142240. An Bras Dermatol. 2014. PMID: 24626674 Free PMC article. - MIDAS syndrome (microphthalmia, dermal aplasia, and sclerocornea): an X-linked phenotype distinct from Goltz syndrome.
Happle R, Daniëls O, Koopman RJ. Happle R, et al. Am J Med Genet. 1993 Oct 1;47(5):710-3. doi: 10.1002/ajmg.1320470525. Am J Med Genet. 1993. PMID: 8267001 Review.
Cited by
- Blackout in the powerhouse: clinical phenotypes associated with defects in the assembly of OXPHOS complexes and the mitoribosome.
Hock DH, Robinson DRL, Stroud DA. Hock DH, et al. Biochem J. 2020 Nov 13;477(21):4085-4132. doi: 10.1042/BCJ20190767. Biochem J. 2020. PMID: 33151299 Free PMC article. Review. - Disorders caused by chromosome abnormalities.
Theisen A, Shaffer LG. Theisen A, et al. Appl Clin Genet. 2010 Dec 10;3:159-74. doi: 10.2147/TACG.S8884. Print 2010. Appl Clin Genet. 2010. PMID: 23776360 Free PMC article. - Familial cases of a submicroscopic Xp22.2 deletion: genotype-phenotype correlation in microphthalmia with linear skin defects syndrome.
Vergult S, Leroy B, Claerhout I, Menten B. Vergult S, et al. Mol Vis. 2013;19:311-8. Epub 2013 Feb 6. Mol Vis. 2013. PMID: 23401659 Free PMC article. - Mutations in COX7B cause microphthalmia with linear skin lesions, an unconventional mitochondrial disease.
Indrieri A, van Rahden VA, Tiranti V, Morleo M, Iaconis D, Tammaro R, D'Amato I, Conte I, Maystadt I, Demuth S, Zvulunov A, Kutsche K, Zeviani M, Franco B. Indrieri A, et al. Am J Hum Genet. 2012 Nov 2;91(5):942-9. doi: 10.1016/j.ajhg.2012.09.016. Am J Hum Genet. 2012. PMID: 23122588 Free PMC article. - Mitochondrial genetics.
Chinnery PF, Hudson G. Chinnery PF, et al. Br Med Bull. 2013;106(1):135-59. doi: 10.1093/bmb/ldt017. Epub 2013 May 22. Br Med Bull. 2013. PMID: 23704099 Free PMC article. Review.
Publication types
MeSH terms
LinkOut - more resources
Full Text Sources
Molecular Biology Databases