|Year : 2017 | Volume
| Issue : 1 | Page : 46-49
Adams–Oliver syndrome: Report of a sporadic case with limited cutaneous expression
Vibhu Mendiratta, Anita Marak, Ram Chander, Anuja Yadav
Department of Dermatology and STD, Lady Hardinge Medical College and Associated Hospitals, New Delhi, India
|Date of Web Publication||12-Dec-2016|
Department of Dermatology and STD, Lady Hardinge Medical College and Associated Hospitals, New Delhi
Source of Support: None, Conflict of Interest: None
Adams Oliver syndrome (AOS) is a rare autosomal dominant congenital disorder characterized by absence of skin and or underlying structure over scalp along with transverse limb defect. It was first described by Adam and Oliver in 1945. We report a rare case of adams oliver syndrome with limited expression involving scalp, transverse limb defects along with unreported truncal involvement.
Keywords: Atrophic shiny vertex with cicatricial alopecia, cicatricial alopecia of scalp, defects in the fingers and toes, large raw areas over scalp and trunk
|How to cite this article:|
Mendiratta V, Marak A, Chander R, Yadav A. Adams–Oliver syndrome: Report of a sporadic case with limited cutaneous expression. Indian J Paediatr Dermatol 2017;18:46-9
|How to cite this URL:|
Mendiratta V, Marak A, Chander R, Yadav A. Adams–Oliver syndrome: Report of a sporadic case with limited cutaneous expression. Indian J Paediatr Dermatol [serial online] 2017 [cited 2019 Sep 18];18:46-9. Available from: http://www.ijpd.in/text.asp?2017/18/1/46/193027
| Introduction|| |
Adams–Oliver syndrome (AOS) is a rare variably expressed congenital disorder characterized by the presence of aplasia cutis congenita (ACC) of the scalp and transverse limb defects. AOS is classified as type 2 ACC under Frieden's classification that incorporates both ACC of the scalp and distal limb defects. The first report of AOS was described as an autosomal dominant disorder by Adam and Oliver, however, further case reports suggested that its occurrence is more commonly sporadic., Phenotypically, there are three types of AOS. Type 1 autosomal dominant form with variable expression caused by heterozygous mutations in the ARHGAP31 gene, a Cdc42/Rac1 GTPase regulator. AOS type 2 is an autosomal recessive form, which can be caused by loss-of-function homozygous or compound heterozygous mutations in the DOCK6 gene, an atypical guanidine exchange factor known to activate Cdc42 and Rac1. AOS type 3 is an autosomal dominant form, which can be caused by heterozygous mutations in the RBPJ gene, a primary transcriptional regulator for the Notch signaling pathway.
We report a sporadic case of AOS with a limited expression involving the scalp, transverse limb defects along with hitherto unreported truncal involvement.
| Case Report|| |
A 1-year-old term male baby, born of a nonconsanguineous marriage was brought for cicatricial alopecia of scalp for 3–4 months of age. Mother noted the presence of large raw areas over scalp and trunk along with defects in the fingers of right hand and toes of both feet since birth. These raw areas healed after antibiotic dressing within 6 months to leave behind scars and diminished hair over scalp since then. There were no preceding fluid filled lesions over these areas, natal tooth, decrease sweating, or seizures. The mother had received oral medication of unknown nature for abdominal pain frequently during the first trimester of pregnancy. The child had a normal developmental milestone. The elder sibling did not have any abnormality.
Examination revealed the presence of a single well-defined 30 cm × 15 cm atrophic scar extending from the middle portion of the back till the gluteal cleft. The scar was rhomboid shaped superiorly tapering down inferiorly in a linear pattern. Scalp examination showed atrophic shiny vertex with complete areas of cicatricial alopecia over the crown and most part of the parietal area. There was also the presence of multiple discrete to coalescent hypopigmented atrophic scars of sizes ranging from 0.5 cm × 0.5 cm to 1 cm × 0.5 cm. Multiple superficial erosions were also noted. No obvious underlying bony defect was palpable. Anterior fontanelle was open. [Figure 1] shows the scarring of scalp and trunk.
|Figure 1: (a) Scarring and cicatricial alopecia of scalp and (b) rhomboid shape scar over back extending from mid back to gluteal cleft|
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Hand and feet examination revealed the presence of syndactyly of the fingers of right hand and brachydactyly of the little toes of both the feet. No other bony abnormality detected. Ophthalmological, ENT and dental examination were normal. IQ was normal as depicted in [Figure 2].
|Figure 2: Brachydactyly and syndactyly of (a) fingers right hand and (b) fifth toes of both feet|
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Hemogram and biochemical investigations showed no abnormality, X-ray of the skull, spine, hip, and feet were within normal limits. However, X-ray of the right hand showed shortening of second, third, and fourth digit and nonvisualization of the distal phalanges. Computed tomography head and magnetic resonance imaging of brain and spine did not reveal any abnormality. Ultrasonography abdomen, echocardiogram, and ECHO were normal.
| Discussion|| |
AOS is a rare congenital disorder, with an unknown incidence. A Spanish study published by Martinez Frias's in 2004 reported a frequency of ACC of 0.44 for every 1 lakh live birth. Male to female distribution is similar according to research conducted by Whitley.
The pathogenesis of AOS still remains obscure, but few have highlighted various hypothesis. The original description of Adam and Oliver suggested that there is an arrested development or agenesis of certain parts of the skeleton and soft tissue. Later on, intrauterine compression and amniotic band sequelae was suggested as a pathogenic factor. Vascular impairment during embryogenesis has been proposed as a possible mechanism by several authors. Teratogenic factors, intrauterine infections such as chickenpox, zoster or simple herpes, fetal exposure to cocaine, heroin, alcohol or antithyroid drugs have all been implicated in the etiopathogenesis also. In our case, the mother gave a history of frequent use of analgesics nature of which was unknown for abdominal pain during the first 3 months of pregnancy. Analgesics like a nonsteroidal anti-inflammatory drug (NSAID), readily cross the placental barrier in the first trimester of pregnancy and accumulate in the fetal tissue. Although there is a lack of evidence of risk of teratogenicity with NSAID during the organogenesis period in humans, one case of possible association of ACC with the use of diclofenac has been reported.
We postulate that repeated intake of the drug by the mother may have caused enough concentration of the drug in the fetal tissues over time and have possibly contributed to the development of ACC.
Others hypothesize that pulmonary hypertension, periventricular leukomalacia and retinal folds as causative mechanisms., The genetic defects in the bone morphogenic proteins pathway were found to be abnormal in these patients by Baskar et al. who thereby suggested that aberrant morphogenesis rather than vascular anomaly was the underlying pathology.
Clinically, AOS is characterized by the presence of variable combinations of ACC of the scalp, transverse limb defects, and cutis marmorata telengiectatica congenita (CMTC). The ACC typically involves the vertex of the scalp and less commonly areas such as the parietal scalp, trunk, and limbs. Scalp ACC may be accompanied with underlying bony defect leading to serious complications such as encephalocoele, meningitis, and hemorrhage.
The transverse limb defects are asymmetrical and affect the lower limbs more than the upper limbs. Brachydactyly is the most consistent feature described. Loss of terminal phalanges, syndactyly, agenesis of toenails or fingernails, or absence of toes, foot, lower limb, fingers, and hand have been described but are less common.
CMTC is a variable feature seen in 20–25% of the children and may involve the entire skin.
A clinical criterion has been proposed for the diagnosis of AOS as outlined in [Table 1].
|Table 1: Proposed clinical criteria for diagnosis of Adams-Oliver syndrome|
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The presence of two major is sufficient for diagnosis while the combination of one major and one minor is denoted a high likelihood of AOS.
Our patient had limited expression of the disease, which included ACC of scalp along with trunk and transverse limb defects.
Congenital cardiac defects are seen in approximately 20% of AOS. These include ventricular septal defect, tetralogy of Fallot, atrial septal defect, pulmonary atresia, and pulmonary arterial hypertension.
Other less commonly described associations are various brain anomalies such as polymicrogyria, encephaly, hydrocephaly, cerebral cortical dysplasia, or even acrania, spina bifida, spinaocculta, accessory nipples, and cryptorchidism.
Most of the skin defects heal with conservative management with a wound dressing. Larger lesion with underlying skull defect requires early surgical intervention to reduce mortality and risk of developmental delay.
Our patient had ACC of the scalp along with transverse limb defects, which are classical features of AOS. In addition, our patient also had truncal ACC, which has not been described in the literature. This report further reiterates that AOS has a varied phenotypic expression and presence of cicatricial alopecia in infant's calls for a systemic evaluation of the associated malformations in AOS.
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Conflicts of Interest
There are no conflicts of interest.
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[Figure 1], [Figure 2]