Adams–Oliver Syndrome: A Case Report

Frantz, Jeanine Aparecida; Lehmkuhl, Rafaela Ludvig; Leitis, Lucas Hummelgen; Uliano, Vanessa Golfetto; Siementcoski, Guilherme Antonio

doi:10.1111/pde.12423

Cited by 6 publications

(3 citation statements)

References 3 publications

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“…Of 51 patients originally classified as CMTC in our patient databases, 31 met our clinical definition and were thus also included (Figure 1). 16–57 …”

Section: Resultsmentioning

confidence: 99%

Cutis marmorata telangiectatica congenita: Incidence of extracutaneous manifestations and a proposed clinical definition

Downey

Metry

Garzon

et al. 2023

Pediatric Dermatology

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Background/ObjectivesCutis marmorata telangiectatica congenita (CMTC) is a capillary malformation characterized by congenital, reticulated, well‐demarcated dark blue, red‐purple, or violaceous macules or plaques, with a coarse fixed livedo pattern. Nearly always, contiguous areas of skin atrophy and/or ulceration are present. CMTC is usually localized but may rarely be generalized. Such generalized cases may be a feature of Adams‐Oliver syndrome (AOS). The nosologic confusion surrounding the term CMTC and uncertainty about the risk of associated abnormalities hinders the appropriate workup of patients and prognostic counseling for families. We hypothesized that the risk of associated anomalies in children with localized CMTC is very low.MethodsWe performed a literature review and retrospective review of patients with CMTC to propose a more precise clinical definition and ascertain the risk of associated anomalies.ResultsWe included 78 patients determined to have a diagnosis of CMTC based on consensus. The majority of patients had localized CMTC. Most patients with generalized CMTC met the criteria for the diagnosis of AOS. The associations found in patients with localized CMTC were mostly dermatological, with atrophy, ulcerations, or erosions present in 71%. Extracutaneous findings were present in 34.4% of patients and consisted mainly of extremity asymmetry (24.5%) that improved over time.ConclusionOur study showed a very low frequency of extracutaneous anomalies among patients with localized CTMC, ipsilateral limb discrepancy being the most common. We did not find a strong association with any other visceral anomalies that would justify routine evaluation in patients with localized CMTC.

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“…Of 51 patients originally classified as CMTC in our patient databases, 31 met our clinical definition and were thus also included (Figure 1). 16–57 …”

Section: Resultsmentioning

confidence: 99%

Cutis marmorata telangiectatica congenita: Incidence of extracutaneous manifestations and a proposed clinical definition

Downey

Metry

Garzon

et al. 2023

Pediatric Dermatology

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“…There are major and minor criteria for disease diagnosis that have been proposed, of which ACC and TTLDs are major criteria . AOS has been estimated to have an incidence of 0.44 per 100,000 live births to 1 per 10,000 live births . AOS has variable penetrance and expression and is most often transmitted through autosomal dominant inheritance.…”

Section: Discussionmentioning

confidence: 99%

Adams–Oliver Syndrome Type 2 in Association with Compound Heterozygous DOCK6 Mutations

Jones

Silfvast‐Kaiser

Leake

et al. 2017

Pediatric Dermatology

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Adams-Oliver syndrome (AOS) is a multiple congenital anomaly syndrome characterized by aplasia cutis congenita (ACC) and transverse terminal limb defects (TTLDs). We present a case of type 2 autosomal recessive AOS associated with heterozygous mutations in the dedicator of cytokinesis 6 (DOCK6) gene, with characteristic findings of ACC, TTLD, intracerebral periventricular calcifications, and polymicrogyria.

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“…5,7 Spasticity, epilepsy, motor and mental retardation are described as neurological abnormalities in these patients. [7][8][9] Our case had normal cranial magnetic resonance (MR) findings and his neurological examination was also normal.…”

Section: Discussionmentioning

confidence: 99%