Answer

Diagnosis: Adams-Oliver Syndrome

Discussion

Aplasia cutis congenita (ACC) is most often a benign isolated defect, but it can be associated with other physical anomalies or malformation syndromes. The combination of ACC and skeletal defects of the extremities in this patient suggests the diagnosis of Adams-Oliver syndrome (AOS).

AOS is a congenital condition comprising scalp defects and distal limb abnormalities. ^[1] It is mostly inherited as an autosomal dominant trait but sporadic cases have been described. ^[2],[3] Our case had no family history of AOS, so it is most likely a sporadic one. Although a clear pathogenesis has not been established, vascular impairments have mainly been assumed. ^[4] Additionally, the persistence of amniotic bands or external compression during pregnancy has been discussed. ^[5]

In combination with terminal transverse limb defects (TTLD), the most common site for ACC is the vertex, with the scalp defect often, but not invariably, associated with an underlying skull vault defect, with degrees of severity of involvement extending to periosteum, skull and dura. The majority of subjects with ACC have no involvement of the underlying brain and the cranial defect can, in most instances, be managed conservatively. However, the most severe manifestations can be associated with a mortality rate of between 20% and 55% due to hemorrhage or infection. ^[6] Urgent surgical intervention may be required with operative measures that include primary closure, skin grafting, local scalp flaps with or without tissue expansion, and cranial vault reconstruction using split rib grafts and free latissimus dorsi muscle flap. ^[6] The present case had ACC with normal underlying skull.

Clinically, the limb defects are the most common feature of this disease and are usually bilateral and asymmetric. The most frequently observed limb malformations in this disorder include syndactyly, brachydactyly, polydactyly, oligodactyly and hypoplastic finger/toe nails. There is, however, a great variability in severity ranging from the complete absence of the foot or hand to only mild manifestations or normal appearance, as seen in obligate AOS carriers. ^[7]

Other associated defects include a variety of features including cutis marmorata telangiectasia congenita, ^[8],[9] hemangiomas, skin tags, supernumerary nipples, woolly hair, central nervous system abnormalities, ^{[10],[11],[12]} cardiac malformations, ^[13],[14] gastrointestinal and hepatic malformations, accessory nipples, microphthalmia, hereditary hemorrhagic telangiectasia and cleft lip. ^[15] Our patient did not have any of these anomalies as proved by examination and investigations.



The names of the winners(first three correct entries) are:

1. Vinay K, PGIMER, Chandigarh
2. Priya Jeevamani C, CMC, Vellore
3. Shraddha Uprety, PGIMER, Chandigarh

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Riti Bhatia, Priya Jeevamani C, Vishal Gupta, Anupam Das, Zubin Mandlewala, Dipti Das, Bala Naga Sindhura K, Anirban Das, Indrashis Podder, Urmi Khanna, Rajsmita Bhattacharjee, Tejasvi Bobbili, Mrinal Gupta, Dimple Doda, Keerthi Subramaniam, Keshavmurthy Adya, G. V. Seethalakshmi, Monica Chahar, Deblina Bhunia, Anjali Pal, C. Vijay Krishna, Sambeet Kumar Mallik, Payal Yadav, Soumya Jagadeesan, Kinjal Rambhia, Sunil Kumar Gupta, Priyanka C.Patil, S. Murugan, Geeti Khullar, Esther Nimisha, M.Riswana Jasmine, Bhavana R. Doshi, M. Pavankumar, Shekhar neema, Smita Nagpal, Sarita Sanke, Prashansa Jaiswal, Neetu Bhari, Dalton Singh, Rameshwar Gutte, Rishu Sarangal, Tirthankar Gayen, Prathyusha yakkala , Sanjay Singh, Ankit Mittal, surajit gorai, Satyaki Ganguly, Surekha A, Pooja Agarwal, Prameela Talakola, Sumit Sethi, Kalluru Sirisha, S.Chidambara Murthy, Kalluru Sirisha, Masuma P Bhengra, Jasveen Kaur, Praveen Jain