Absence of fingerprints-congenital milia syndrome explained

Absence of fingerprints-congenital milia syndrome
Synonyms:Absence of dermatoglyphics congenital milia, Baird syndrome, Adermatoglyphia with congenital facial milia and acral blisters, digital contractures, and nail abnormalities, Basan syndrome.[1]
Complications:Usually none (health-wise), however; hypohidrosis may lead to heat exhaustion or even a heat stroke, and the absence of fingerprints may complicate the use of systems that require fingerprint-identification
Onset:Birth
Duration:Life-long
Risks:Having a parent with the disorder
Prevention:none
Prognosis:Good
Frequency:extremely rare, only 10 families worldwide are known to be affected with this disorder.

Absence of fingerprints-congenital milia syndrome, also known simply as Baird syndrome is an extremely rare autosomal dominant genetic disorder which is characterized by a lack of fingerprints and the appearance of blisters and facial milia soon after birth.[2] It has been described in ten families worldwide.[3] [4]

Presentation

People with this disorder often have congenital adermatoglyphia, facial milia and blisters soon after birth, hypohidrosis (less sweating than average), and either thin or thickened skin throughout the body.[5] [6] [7] [8]

Single transversal palmar lines, plantar keratoderma, nail grooving, toe syndactyly and finger camptodactyly have also been reported.[9] [10] [11] Rarely, constriction ring syndrome is reported.[12]

Causes

Through a large Han Chinese family with the disorder, it was found to be caused by mutations in the SMARCAD1 gene, in chromosome 4.[13] [14] [15] [16] [17] [18] [19] This gene produces a protein that is believed to control genes associated with the development of the fingerprints.[20]

Notes and References

  1. Web site: Absence of fingerprints congenital milia .
  2. Web site: RESERVED . INSERM US14-- ALL RIGHTS . Orphanet: Baird syndrome . 2022-05-17 . www.orpha.net . en.
  3. Elhaji . Youssef . van Henten . Tessa M. A. . Ruivenkamp . Claudia A. L. . Nightingale . Mathew . Santen . Gijs WE . Vos . Lydia E. . Hull . Peter R. . 2021-09-01 . Two SMARCAD1 Variants Causing Basan Syndrome in a Canadian and a Dutch Family . JID Innovations . en . 1 . 3 . 100022 . 10.1016/j.xjidi.2021.100022 . 34909722 . 8659716 . 2667-0267.
  4. Web site: Absence of fingerprints-congenital milia syndrome . 2022-05-17 . www.ebi.ac.uk.
  5. Web site: 2022-05-17 . ABSENCE OF FINGERPRINTS-CONGENITAL MILIA SYNDROME . 2022-05-17 . www.mendelian.co . en.
  6. Web site: OMIM Entry - # 129200 - BASAN SYNDROME . 2022-05-18 . omim.org . en-us.
  7. Límová . M. . Blacker . K. L. . LeBoit . P. E. . August 1993 . Congenital absence of dermatoglyphs . Journal of the American Academy of Dermatology . 29 . 2 Pt 2 . 355–358 . 10.1016/0190-9622(93)70195-y . 0190-9622 . 8340514.
  8. Web site: PomBase . 2022-05-18 . www.pombase.org.
  9. Web site: Basan syndrome - NIH Genetic Testing Registry (GTR) - NCBI . 2022-05-18 . www.ncbi.nlm.nih.gov.
  10. Web site: Absence of Fingerprints Congenital Milia Syndrome . 2022-05-17 . DoveMed . en.
  11. Web site: beautiful source .
  12. Web site: Absence of fingerprints congenital milia – Rare Hematology News . 2022-05-18 . en-US.
  13. Li . Ming . Wang . Jianbo . Li . Zhenlu . Zhang . Jia . Ni . Cheng . Cheng . Ruhong . Yao . Zhirong . August 2016 . Genome-wide linkage analysis and whole-genome sequencing identify a recurrent SMARCAD1 variant in a unique Chinese family with Basan syndrome . European Journal of Human Genetics . 24 . 9 . 1367–1370 . 10.1038/ejhg.2016.15 . 1018-4813 . 4989204 . 26932190.
  14. Web site: Figure 2 Association between Mutation in SMARCAD1 and Basan Syndrome with Cutaneous Squamous Cell Carcinoma . 2022-05-17 . www.hindawi.com.
  15. Nieto‐Benito . Lula María . Molina‐López . Irene . Feito‐Rodríguez . Marta . Martínez‐González . Víctor . Suárez‐Fernández . Ricardo . Campos‐Dominguez . Minia . March 2021 . Ectodermal dysplasia with congenital adermatoglyphia (Basan syndrome): Report of two cases presenting with extensive congenital milia . Pediatric Dermatology . en . 38 . 2 . 530–532 . 10.1111/pde.14512 . 33486784 . 231703550 . 0736-8046.
  16. Valentin . Monica N. . Solomon . Benjamin D. . Richard . Gabriele . Ferreira . Carlos R. . Kirkorian . Anna Yasmine . November 2018 . Basan gets a new fingerprint: Mutations in the skin-specific isoform of SMARCAD1 cause ectodermal dysplasia syndromes with adermatoglyphia . American Journal of Medical Genetics Part A . en . 176 . 11 . 2451–2455 . 10.1002/ajmg.a.40485. 30289605 . 52921175 . 10557913 .
  17. Li . Ming . Wang . Jianbo . Li . Zhenlu . Zhang . Jia . Ni . Cheng . Cheng . Ruhong . Yao . Zhirong . September 2016 . Genome-wide linkage analysis and whole-genome sequencing identify a recurrent SMARCAD1 variant in a unique Chinese family with Basan syndrome . European Journal of Human Genetics . en . 24 . 9 . 1367–1370 . 10.1038/ejhg.2016.15 . 26932190 . 4989204 . 1476-5438.
  18. Web site: Basan Syndrome (BSNS) . 2022-05-18 . www.malacards.org.
  19. Web site: KEGG DISEASE: Basan syndrome . 2022-05-18 . www.genome.jp.
  20. Web site: Why some people don't have fingerprints . 2022-05-18 . NBC News . en.

This article is licensed under the GNU Free Documentation License. It uses material from the Wikipedia article "Absence of fingerprints-congenital milia syndrome".

Except where otherwise indicated, Everything.Explained.Today is © Copyright 2009-2024, A B Cryer, All Rights Reserved. Cookie policy.