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Literature DB >> 22826717

Multiple aplasia cutis congenita lesions located along Blaschko's lines in a patient with tetralogy of Fallot-A.

Daiki Rokunohe¹, Eijiro Akasaka, Akiko Rokunohe, Takahide Kaneko, Yasushi Matsuzaki, Noriko Takiyoshi, Takayuki Aizu, Hajime Nakano, Daisuke Sawamura.

Abstract

BACKGROUND: Aplasia cutis congenita (ACC) is a congenital absence of skin, and a single alopecic lesion on the scalp is the most common form. MAIN OBSERVATION: We present a case of ACC with tetralogy of Fallot-A. Differetial diagnosis included Adams-Oliver syndrome and nevus psiloliparus. Interestingly, our patient showed multiple ACC lesions, which were located along Blaschko's lines.
CONCLUSIONS: As far as we know, our case is the third case of ACC with tetralogy of Fallot-A. Also, this is the first case of ACC associated with Blaschko's lines.

Entities: Disease Species

Keywords: Adams-Oliver syndrome; alopecia; cardiovascular disease; hair loss; scalp

Year: 2012 PMID： 22826717 PMCID： PMC3399674 DOI： 10.3315/jdcr.2012.1096

Source DB: PubMed Journal: J Dermatol Case Rep ISSN： 1898-7249

9 in total

1. The lines of Blaschko on the head and neck.

Authors: R Happle; A Assim
Journal: J Am Acad Dermatol Date: 2001-04 Impact factor: 11.527

2. Gain-of-function mutations of ARHGAP31, a Cdc42/Rac1 GTPase regulator, cause syndromic cutis aplasia and limb anomalies.

Authors: Laura Southgate; Rajiv D Machado; Katie M Snape; Martin Primeau; Dimitra Dafou; Deborah M Ruddy; Peter A Branney; Malcolm Fisher; Grace J Lee; Michael A Simpson; Yi He; Teisha Y Bradshaw; Bettina Blaumeiser; William S Winship; Willie Reardon; Eamonn R Maher; David R FitzPatrick; Wim Wuyts; Martin Zenker; Nathalie Lamarche-Vane; Richard C Trembath
Journal: Am J Hum Genet Date: 2011-05-13 Impact factor: 11.025

3. Recessive mutations in DOCK6, encoding the guanidine nucleotide exchange factor DOCK6, lead to abnormal actin cytoskeleton organization and Adams-Oliver syndrome.

Authors: Ranad Shaheen; Eissa Faqeih; Asma Sunker; Heba Morsy; Tarfa Al-Sheddi; Hanan E Shamseldin; Nouran Adly; Mais Hashem; Fowzan S Alkuraya
Journal: Am J Hum Genet Date: 2011-08-04 Impact factor: 11.025

2 in total

1. Aplasia cutis congenita on lumbosacral area.

Authors: Piyush Kumar; Ramesh Chandra Gharami
Journal: Indian Dermatol Online J Date: 2014-01

Review 2. Multiple aplasia cutis congenita type V and fetus papyraceous: a case report and review of the literature.

Authors: V Thadchanamoorthy; Kavinda Dayasiri; M Thirukumar; N Thamilvannan; S H Chandraratne
Journal: J Med Case Rep Date: 2021-03-04

2 in total

Multiple aplasia cutis congenita lesions located along Blaschko's lines in a patient with tetralogy of Fallot-A.

1. The lines of Blaschko on the head and neck.

2. Gain-of-function mutations of ARHGAP31, a Cdc42/Rac1 GTPase regulator, cause syndromic cutis aplasia and limb anomalies.

3. Recessive mutations in DOCK6, encoding the guanidine nucleotide exchange factor DOCK6, lead to abnormal actin cytoskeleton organization and Adams-Oliver syndrome.

4. Aplasia cutis congenita in a defined population from northwest Spain.

5. Nevus psiloliparus and aplasia cutis: a further possible example of didymosis.

Review 6. The spectra of clinical phenotypes in aplasia cutis congenita and terminal transverse limb defects.

Review 7. Aplasia cutis congenita: a clinical review and proposal for classification.

8. Nevus psiloliparus: a distinct fatty tissue nevus.

9. Tetralogy of Fallot and hypertrophic cardiomyopathy in a case of cardiofaciocutaneous syndrome.

1. Aplasia cutis congenita on lumbosacral area.

Review 2. Multiple aplasia cutis congenita type V and fetus papyraceous: a case report and review of the literature.