Adams – Oliver Syndrome

Aplasia cutis congenita is characterized by congenital absence of portion of skin over a localized or widespread area. Adams- Oliver syndrome (subtype-II of ACC) is associated with distal limb reduction anomalies. We describe an infant with this uncommon disease associated with multiple midline lesions, which is a rare occurrence. J Nepal Paediatr Soc 2015;35(2):168-171


Introduction
A plasia cu s congenita (ACC) is characterized by congenital absence of a por on of skin over a localized or widespread area.Frieden classifi ed ACC into 9 subtypes.(Table 1) Adams-Oliver syndrome (AOS) is subtype-II of ACC which is associated with distal limb reduc on anomalies.Mul ple systems may be involved including central nervous system, cardiovascular system, gastrointes nal and genitourinary systems.Internal anomalies may be severe and lethal. 1,2We present a case of AOS with isolated terminal limb defects and aplasia cu s congenita involving the scalp and the back without any systemic involvement, which is a rare occurrence.

The Case
A fi ve month old male child presented with bald scars over the scalp and back since birth.He was born at term by normal vaginal delivery to primigravida mother with uneven ul antenatal period.Parents were non-consanguineous.There was no history of maternal drug intake, infec on or radia on exposure during pregnancy.There was no family history of AOS, mental retarda on or central nervous system anomalies.Physical growth and psychomotor development were within normal limits.On examina on he had a smooth, round bald scar of 9 cm maximum diameter with dilated veins and a rim of hypertrichosis surrounding it over mid scalp.Similarly a linear, stellate bald scar of 21 cm maximum diameter with glistening surface, surrounded by rim of hyper pigmented skin was present over lower mid-back (Fig. 1).He had hypoplasia of toes in both feet, more marked in li le toes (Fig. 2).Radiograph of feet showed hypoplas c phalanges in all toes with absence of distal phalanges in li le toes (Fig. 3).Radiograph of spine and USG cranium were normal.
Systemic examina on including funduscopy was normal.

Discussion
Aplasia cu s congenita (ACC) is a rare inherited developmental defect characterized by absence of skin in small patches.The e ology is not certain but suggested causes include ectodermal arrest during embryogenesis, compromised vasculature to the skin during embryogenesis, trauma, teratogens (methimazole), amnio c bands and gene c factors.Pulmonary hypertension, periventricular leukomalacia and re nal folds were also proposed as causa ve mechanisms.More recently abnormal pericyte recruitment to blood vessels was postulated as a possible e ology 3,4,5 .Adams Oliver syndrome (ACC type II) is characterized by distal limb reduc on anomalies in associa on with the absence of skin.It is most commonly transmi ed as an autosomal dominant trait with variable penetrance and expression, but autosomal recessive (AR) mode of inheritance and sporadic cases are also reported 4 .There are no diff erences in clinical manifesta ons based on the mode of inheritance.In our case, there was no family history of AOS, so it is most likely a sporadic one.
The skin lesions are characteris cally solitary or mul ple bald scars over the parietal area of skull, near the site of posterior fontanelle accompanied by dilated scalp veins.At birth the lesions may have already healed with scarring as an atrophic, parchment like scar with associated alopecia or may remain superfi cially eroded to deeply ulcerated.
The commonest limb anomaly is in the form of hypoplas c or absent distal phalanges.Other anomalies include syndactyly, brachydactyly, polydactyly and oligodactyly but some cases may have amelia of upper and lower limbs 2,6 .AOS usually aff ects lower limbs more severely than the upper limbs.
Various intracranial anomalies described in these pa ents include encephalocele, microcephaly, cor cal dysplasia, pachygyria, hypoplas c corpus callosum, parenchymal calcifi ca ons, abnormal cerebral vasculature and ventriculomegaly.Due to these abnormali es, symptoms like spas c hemiplegia, epilepsy and mental retarda on are frequently found in AOS pa ents 7 .
Cardiovascular malforma ons include obstruc ve defects in le heart, valvular anomalies, pulmonary vascular malforma on and pulmonary hypertension 5 .
Apart from classical scalp lesion and limb anomalies, the present case had a stellate large bald scar over back which is an unusual occurrence.In fact, about 80% of all skin lesions reported are on the scalp.Lesions are single in about 70% of cases, double in about 20% and triple in about 5 % 1 .Major complica ons are rare but include secondary local infec on, hemorrhage, meningi s or sagi al sinus thrombosis.Our pa ent received symptoma c treatment and the hospital stay was uneven ul.
The diff eren al diagnoses include obstetric trauma, focal dermal hypoplasia, trisomy 13 and amnio c band sequence 2 .Iatrogenic scalp defects following the use of forceps or scalp electrodes during labour can be mistaken for congenital absence of skin, a confusion which may have signifi cant medico-legal repercussions.History of use of such instruments during delivery and absence of any other associated congenital anomaly may help to dis nguish between the two.Focal dermal hypoplasia is characterized by linear streaks of atrophied skin, telangiectasia with so , fa y nodules and digital malforma ons.Trisomy 13 is dis nguished by associated characteris c fi ndings including holoprosencephaly, micropthalmia, iris colobomas, cle lip and/or palate and port wine stain on the forehead and rare survival beyond infancy.In amnio c band sequence, lesions may occur at any site and are unlikely to be symmetrical.
Prognosis of the isolated or smaller skin lesion(s) is good if care is taken to prevent secondary infec on and trauma using gentle cleaning, bland ointment and appropriate an bio cs if infec on occurs 2 .They tend to heal spontaneously from the margins in due course of me leaving behind a smooth, yellowish, hairless and papery scar.Larger defects may need gra ing or fl ap rota on 10 .Gene c counseling is diffi cult because of possible heterogeneity and broad spectrum of symptoms but should be considered if associated anomalies and family history are noted 4 .Prenatal diagnosis, as well as the assessment of severity is possible even in the fi rst trimester 11 .

Conclusion
Aplasia cu s congenita, so extensive, is rare.It is part of many syndromes and hence may be associated with mul ple other major congenital anomalies.Hence, any baby with aplasia cu s should be evaluated for intracranial, cardiovascular, gastrointes nal, hepa c, genitourinary and limb anomalies.Moreover, as it may some mes be misdiagnosed as an avulsion caused by vacuum applica on during delivery, correct diagnosis of aplasia cu s is of medico-legal signifi cance.Hence this case is reported to highlight the importance of aplasia cu s congenita.

Fig 1 :Fig 2 :
Fig 1: A mid-line bald scar on back

Fig 3 :
Fig 3: X-ray feet showing hypoplas c phalanges and absent distal phalanges in li le toes