Wikipedia

Absence of fingerprints-congenital milia syndrome

(Redirected from Ectodermal dysplasia absent dermatoglyphics)

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]

Absence of fingerprints-congenital milia syndrome
Other namesAbsence of dermatoglyphics congenital milia, Baird syndrome, Adermatoglyphia with congenital facial milia and acral blisters, digital contractures, and nail abnormalities, Basan syndrome.[1]
SpecialtyMedical genetics
Symptomsadermatoglyphia with neo-natal blisters and facial milia
ComplicationsUsually 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
Usual onsetBirth
DurationLife-long
TypesAdermatoglyphia syndromes
CausesGenetic mutation
Risk factorsHaving a parent with the disorder
Diagnostic methodPhysical examination, genetic testing
Differential diagnosisIsolated adermatoglyphia
Preventionnone
PrognosisGood
Frequencyextremely rare, only 10 families worldwide are known to be affected with this disorder.

Presentation

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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

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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]

References

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  1. ^ "Absence of fingerprints congenital milia".
  2. ^ RESERVED, INSERM US14-- ALL RIGHTS. "Orphanet: Baird syndrome". www.orpha.net. Retrieved 2022-05-17.{{cite web}}: CS1 maint: numeric names: authors list (link)
  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. 1 (3): 100022. doi:10.1016/j.xjidi.2021.100022. ISSN 2667-0267. PMC 8659716. PMID 34909722.
  4. ^ "Absence of fingerprints-congenital milia syndrome". www.ebi.ac.uk. Retrieved 2022-05-17.
  5. ^ "ABSENCE OF FINGERPRINTS-CONGENITAL MILIA SYNDROME". www.mendelian.co. 2022-05-17. Retrieved 2022-05-17.
  6. ^ "OMIM Entry - # 129200 - BASAN SYNDROME". omim.org. Retrieved 2022-05-18.
  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. doi:10.1016/0190-9622(93)70195-y. ISSN 0190-9622. PMID 8340514.
  8. ^ "PomBase". www.pombase.org. Retrieved 2022-05-18.
  9. ^ "Basan syndrome - NIH Genetic Testing Registry (GTR) - NCBI". www.ncbi.nlm.nih.gov. Retrieved 2022-05-18.
  10. ^ "Absence of Fingerprints Congenital Milia Syndrome". DoveMed. Retrieved 2022-05-17.
  11. ^ "beautiful source".
  12. ^ "Absence of fingerprints congenital milia – Rare Hematology News". Retrieved 2022-05-18.
  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. doi:10.1038/ejhg.2016.15. ISSN 1018-4813. PMC 4989204. PMID 26932190.
  14. ^ "Figure 2 | Association between Mutation in SMARCAD1 and Basan Syndrome with Cutaneous Squamous Cell Carcinoma". www.hindawi.com. Retrieved 2022-05-17.
  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. 38 (2): 530–532. doi:10.1111/pde.14512. ISSN 0736-8046. PMID 33486784. S2CID 231703550.
  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. 176 (11): 2451–2455. doi:10.1002/ajmg.a.40485. PMC 10557913. PMID 30289605. S2CID 52921175.
  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. 24 (9): 1367–1370. doi:10.1038/ejhg.2016.15. ISSN 1476-5438. PMC 4989204. PMID 26932190.
  18. ^ "Basan Syndrome (BSNS)". www.malacards.org. Retrieved 2022-05-18.
  19. ^ "KEGG DISEASE: Basan syndrome". www.genome.jp. Retrieved 2022-05-18.
  20. ^ "Why some people don't have fingerprints". NBC News. Retrieved 2022-05-18.
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