Authors :
Dr. Dina Houjjaj; Dr. Sara Mouhmouh; Dr. Sara Yasyn; Dr. Fatima Zahra Azraq; Amal Benbella; Bouchaib Allae Eddine; Abdelhai Adibe Filali; Mohammed Hassan Alami; Rachid Bezad
Volume/Issue :
Volume 11 - 2026, Issue 5 - May
Google Scholar :
https://tinyurl.com/yc7tv2r8
Scribd :
https://tinyurl.com/4346v8s5
DOI :
https://doi.org/10.38124/ijisrt/26May1535
Note : A published paper may take 4-5 working days from the publication date to appear in PlumX Metrics, Semantic Scholar, and ResearchGate.
Abstract :
Introduction:
Congenital aplasia cutis (CAC) is a rare malformation characterized by the absence of skin at birth. Its association
with congenital anonychia and hemangiomas represents an even more exceptional entity.
Case Report:
We report the case of a female newborn, weighing 3,670 g, delivered vaginally at 39 weeks of gestation with an Apgar
score of 10, born to a 35-year-old multiparous mother (G5P4) with no notable personal or family history, no consanguinity,
and no exposure to medications or medicinal plants. Clinical examination at birth revealed multifocal aplasia cutis lesions
(trunk and dorsal region), complete anonychia of the toes, and a large vascular formation consistent with a hemangioma on
the right upper limb.
Discussion:
CAC may occur in the context of complex syndromes (Adams-Oliver, Bart, Johansson-Blizzard). The association with
anonychia and hemangiomas suggests Adams-Oliver syndrome, which requires rigorous multidisciplinary management.
Conclusion:
This case illustrates the importance of a precise clinical description and a comprehensive etiological workup in the
neonatal period for any newborn presenting with aplasia cutis, in order to establish a prognosis and guide the family.
Keywords :
Aplasia Cutis Congenita; Anonychia; Hemangioma; Adams-Oliver Syndrome; Newborn.
References :
- Frieden IJ. Aplasia cutis congenita: a clinical review and proposal for classification. J Am Acad Dermatol. 1986;14(4):646-660.
- Adams FH, Oliver CP. Hereditary deformities in man due to arrested development. J Hered. 1945;36(1):3-7.
- Verdyck P, Blaumeiser B, Fryns JP, Wuyts W. Adams-Oliver syndrome: clinical description of a four-generation family and exclusion of five candidate genomic regions. Clin Genet. 2006;69(2):114-119.
- Snape KM, Ruddy D, Zenker M, et al. The spectra of clinical phenotypes in aplasia cutis congenita and terminal transverse limb defects. Am J Med Genet A. 2009;149A(8):1860-1881.
- Kariminejad A, Bozorgmehr B, Najafi A, et al. Aplasia cutis congenita, epidermal nevus and eye/brain abnormalities in a child with MIDAS syndrome. Pediatr Dermatol. 2014;31(2):193-198.
- Koenig M, Brueton L, Woolfson J, et al. Mutations in ARHGAP31, encoding a RhoA/Rac1 GTPase regulator, cause a novel form of Adams-Oliver syndrome. Am J Hum Genet. 2013;93(2):366-372.
- Patel DG, Bhakta S, Bhatt M. Congenital aplasia cutis congenita: a case series and review of literature. Indian J Dermatol. 2016;61(2):218-221.
- Drolet BA, Esterly NB, Frieden IJ. Hemangiomas in children. N Engl J Med. 1999;341(3):173-181.
- Leauté-Labrèze C, Hoeger P, Mazereeuw-Hautier J, et al. A randomized, controlled trial of oral propranolol in infantile hemangioma. N Engl J Med. 2015;372(8):735-746.
- Swanson AG. Congenital aplasia of the scalp. AMA Arch Dermatol. 1961;83(3):501-502.
Introduction:
Congenital aplasia cutis (CAC) is a rare malformation characterized by the absence of skin at birth. Its association
with congenital anonychia and hemangiomas represents an even more exceptional entity.
Case Report:
We report the case of a female newborn, weighing 3,670 g, delivered vaginally at 39 weeks of gestation with an Apgar
score of 10, born to a 35-year-old multiparous mother (G5P4) with no notable personal or family history, no consanguinity,
and no exposure to medications or medicinal plants. Clinical examination at birth revealed multifocal aplasia cutis lesions
(trunk and dorsal region), complete anonychia of the toes, and a large vascular formation consistent with a hemangioma on
the right upper limb.
Discussion:
CAC may occur in the context of complex syndromes (Adams-Oliver, Bart, Johansson-Blizzard). The association with
anonychia and hemangiomas suggests Adams-Oliver syndrome, which requires rigorous multidisciplinary management.
Conclusion:
This case illustrates the importance of a precise clinical description and a comprehensive etiological workup in the
neonatal period for any newborn presenting with aplasia cutis, in order to establish a prognosis and guide the family.
Keywords :
Aplasia Cutis Congenita; Anonychia; Hemangioma; Adams-Oliver Syndrome; Newborn.