Medicine:Absence of fingerprints-congenital milia syndrome

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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]
Autosomal dominant - en.svg
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.

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]

References

  1. ↑ "Absence of fingerprints congenital milia". https://rarediseases.org/gard-rare-disease/absence-of-fingerprints-congenital-milia/. 
  2. ↑ RESERVED, INSERM US14-- ALL RIGHTS. "Orphanet: Baird syndrome" (in en). https://www.orpha.net/consor/cgi-bin/Disease_Search.php?lng=EN&data_id=1746&Disease_Disease_Search_diseaseType=ORPHA&Disease_Disease_Search_diseaseGroup=1658&Disease(s)/group%20of%20diseases=Baird-syndrome&title=Baird-syndrome&search=Disease_Search_Simple. 
  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" (in en). JID Innovations 1 (3): 100022. doi:10.1016/j.xjidi.2021.100022. ISSN 2667-0267. PMID 34909722. 
  4. ↑ "Absence of fingerprints-congenital milia syndrome". https://www.ebi.ac.uk/ols/ontologies/ORDO/terms?iri=http://www.orpha.net/ORDO/Orphanet_1658#:~:text=A%20rare%20syndrome%20syndrome%20characterized,on%20the%20hands%20and%20feet.. 
  5. ↑ "ABSENCE OF FINGERPRINTS-CONGENITAL MILIA SYNDROME" (in en). 2022-05-17. http://www.mendelian.co/diseases/absence-of-fingerprints-congenital-milia-syndrome. 
  6. ↑ "OMIM Entry - # 129200 - BASAN SYNDROME" (in en-us). https://omim.org/entry/129200. 
  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. https://pubmed.ncbi.nlm.nih.gov/8340514/. 
  8. ↑ "PomBase". https://www.pombase.org/term/MONDO:0007507. 
  9. ↑ "Basan syndrome - NIH Genetic Testing Registry (GTR) - NCBI". https://www.ncbi.nlm.nih.gov/gtr/conditions/C0406707/. 
  10. ↑ "Absence of Fingerprints Congenital Milia Syndrome" (in en). http://www.dovemed.com/diseases-conditions/absence-fingerprints-congenital-milia-syndrome/. 
  11. ↑ "beautiful source". https://rarediseases.oscar.ncsu.edu/disease/absence-of-fingerprints-congenital-milia-syndrome/about/. 
  12. ↑ "Absence of fingerprints congenital milia – Rare Hematology News" (in en-US). https://www.rarehematologynews.com/rarediseases/absence-of-fingerprints-congenital-milia/. 
  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. PMID 26932190. 
  14. ↑ "Figure 2 | Association between Mutation in SMARCAD1 and Basan Syndrome with Cutaneous Squamous Cell Carcinoma". https://www.hindawi.com/journals/dm/2022/7840710/fig2/. 
  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" (in en). Pediatric Dermatology 38 (2): 530–532. doi:10.1111/pde.14512. ISSN 0736-8046. PMID 33486784. https://onlinelibrary.wiley.com/doi/10.1111/pde.14512. 
  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" (in en). American Journal of Medical Genetics Part A 176 (11): 2451–2455. doi:10.1002/ajmg.a.40485. PMID 30289605. https://onlinelibrary.wiley.com/doi/10.1002/ajmg.a.40485. 
  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" (in en). European Journal of Human Genetics 24 (9): 1367–1370. doi:10.1038/ejhg.2016.15. ISSN 1476-5438. PMID 26932190. 
  18. ↑ "Basan Syndrome (BSNS)". https://www.malacards.org/card/basan_syndrome. 
  19. ↑ "KEGG DISEASE: Basan syndrome". https://www.genome.jp/dbget-bin/www_bget?H02296. 
  20. ↑ "Why some people don't have fingerprints" (in en). http://www.nbcnews.com/health/body-odd/why-some-people-dont-have-fingerprints-flna1C6437284. 





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