- Journal List
- Acta Derm Venereol
- v.104; 2024
- PMC11196987
As a library, NLM provides access to scientific literature. Inclusion in an NLM database does not imply endorsem*nt of, or agreement with, the contents by NLM or the National Institutes of Health.
Learn more: PMC Disclaimer | PMC Copyright Notice
Acta Derm Venereol. 2024; 104: 39948.
Published online 2024 Jun 17. doi:10.2340/actadv.v104.39948
PMCID: PMC11196987
PMID: 38881509
Louis DOURS,
1 Médéric JEANNE,2,3 Maya SROUR,4 and Sophie LEDUCQ1
Author information Copyright and License information PMC Disclaimer
A 3-year-old boy was referred to paediatric dermatology for a congenital aplasia of the scalp. He had no family history and was born at term. He was the second child of non-consanguineous parents. Physical examination showed aplasia cutis congenita of the scalp (Fig. 1A, B). It also revealed reticulated, well-demarcated red-purple plaques, with a coarse fixed livedo pattern that was consistent with cutis marmorata telangiectatica congenita of the right arm, trunk, and legs (predominantly on the right leg) (Fig. 1C). Brachydactyly with short distal phalanges and mild cutaneous syndactyly was present (Fig. 1D). Neurological evaluation revealed global developmental delay (acquisition of walking at 22 months, disability in fine motor skills, no word association at age 3 years) and epilepsy. Findings were normal for the remaining clinical examination. Brain MRI showed right aplasia cutis with a defect of the bone (Fig. 1E), haemorrhagic lesions of the choroid plexus, and cortico-subcortical atrophy. Results of echocardiography and abdominal ultrasonography were normal. Ophthalmology examination did not reveal any retinal anomalies.
Fig. 1
(a) Scalp defect at birth (aplasia cutis congenita). (b) Aplasia cutis congenita. (c) Cutis marmorata telangiectatica of the right leg. (d) Shortening of terminal phalanges of fingers (brachydactyly). (e) Brain MRI (axial section, T2-weighted image) showing a defect of the parietal bone.
What is your diagnosis?
Differential diagnosis 1: Adams–Oliver syndrome
Differential diagnosis 2: Amniotic band sequence
Differential diagnosis 3: Focal dermal hypoplasia
Differential diagnosis 4: Macrocephaly cutis marmorata telangiectatica congenita
See next page for answer.
- Acta Derm Venereol. 2024; 104: 39948. »
- A Child with a Congenital Aplasia of the Scalp: A Commentary
2024; 104: 39948.
Published online 2024 Jun 17. doi:10.2340/actadv.v104.39948
Copyright and License information PMC Disclaimer
Diagnosis: Adams–Oliver syndrome
Adams–Oliver syndrome (AOS) (OMIM PS100300) is a rare congenital condition characterized by the association of congenital scalp defects (aplasia cutis congenita) and terminal transverse limb defects (1). The estimated incidence is 1 per 250,000 live births (2). Other anomalies associated with AOS include cutis marmorata telangiectatica congenita (3), dilated tortuous veins on the scalp (3), congenital heart disease (ventricular and atrial septal defects, coarctation of the aorta, bicuspid aorta, etc.) (4), ocular anomalies (retinal detachment, microphthalmia, visual impairment, optic atrophy) (5), and neurological involvement (cognitive disability, spastic hemiplegia or diplegia, seizure) (6). Several pathogenic variants with autosomal dominants forms have been identified (NOTCH1, DLL4, ARHGAP31, RBPJ) as well as autosomal recessive forms (DOCK6, EOGT) (7).
The clinical severity of AOS is heterogeneous, with inter- and intra-familial phenotype variability. Ocular and neurologic anomalies are frequent in patients with DOCK6 variants and heart disease in patients with NOTCH1, DLL4, and RBPJ variants (7). However, only 30% to 50% of patients with AOS have a pathogenic variant (7), and de novo pathogenic variants have been reported, but the frequency is unknown (1). In our patient, genetic analysis did not reveal any pathogenic variant in the genes currently identified in this pathology.
Management requires a multidisciplinary approach (paediatric neurologists, paediatric cardiologists, ophthalmologists, dermatologists, plastic surgeons) for investigation and management. A complete imaging assessment (echocardiography, abdominal ultrasonography, brain MRI) should be performed to detect abnormalities and provide early care (1). In addition, genetic counselling should be offered to families affected by this disease.
REFERENCES
1. Hassed S, Li S, Mulvihill J, Aston C, Palmer S. Adams–Oliver syndrome review of the literature: refining the diagnostic phenotype. Am J Med Genet A2017; 173: 790–800. [PubMed] [Google Scholar]
2. Suarez E, Bertoli MJ, Eloy JD, Shah SP. Case report and review of literature of a rare congenital disorder: Adams–Oliver syndrome. BMC Anesthesiol2021; 21: 117–121. [PMC free article] [PubMed] [Google Scholar]
3. Snape KMG, Ruddy D, Zenker M, Wuyts W, Whiteford M, Johnson D, et al.. The spectra of clinical phenotypes in aplasia cutis congenita and terminal transverse limb defects. Am J Med Genet A2009; 149A: 1860–1881. [PubMed] [Google Scholar]
4. Algaze C, Esplin ED, Lowenthal A, Hudgins L, Tacy TA, Selamet-Tierney ES. Expanding the phenotype of cardiovascular malformations in Adams–Oliver syndrome. Am J Med Genet A2013; 161A: 1386–1389. [PubMed] [Google Scholar]
5. Sukalo M, Tilsen F, Kayserili H, Müller D, Tüysüz B, Ruddy DM, et al.. DOCK6 mutations are responsible for a distinct autosomal-recessive variant of Adams–Oliver syndrome associated with brain and eye anomalies. Hum Mutat2015; 36: 593–598. [PubMed] [Google Scholar]
6. McGoey RR, Lacassie Y. Adams–Oliver syndrome in siblings with central nervous system findings, epilepsy, and developmental delay: refining the features of a severe autosomal recessive variant. Am J Med Genet A2008; 146A: 488–491. [PubMed] [Google Scholar]
7. Meester JAN, Sukalo M, Schröder KC, Schanze D, Baynam G, Borck G, et al.. Elucidating the genetic architecture of Adams–Oliver syndrome in a large European cohort. Hum Mutat2018; 39: 1246–1261. [PMC free article] [PubMed] [Google Scholar]
Articles from Acta Dermato-Venereologica are provided here courtesy of MJS Publishing
