ADAMS-OLIVER SYNDROME: APLASIA CUTIS CONGENITA, TERMINAL TRANSVERSE LIMB DEFECTS AND CUTIS MARMORATA TELANGIECTATICA CONGENITA

Australas J. Dermatol 1994; 35: 19-22

ADAMS-OLIVER SYNDROME: APLASIA CUTIS CONGENITA, TERMINAL TRANSVERSE LIMB DEFECTS AND CUTIS MARMORATA TELANGIECTATICA CONGENITA DELWYN DYALLSMITH, ANDREW RAMSDEN AND SIMON LAURIE Melbourne SUMMARY A male infant with the features of Adams-Oliver syndrome is described. These features

included severe aplasia cutis congenita (ACC) of the scalp involving both skin and cmniurn, a shortened right foot with talips equinovarus, extensive cutis rnarmomta telangiectatica congenita and also haemangiomas and ulceration of the abdominalskin. Exposure of the duml membmne was associated with iflection, hyponatmemia andfinally localised necrosis with herniation of brain and fatal cerebral haemorrhage. Key Words: Aplasia cutis congenita, Cutis marmorata, talipes, hyponatraemia. INTRODUCTION The association of terminal transverse limb defects and aplasia cutis congenita of the scalp was first described as an autosomal dominant disorder in a large kindred by Adams and Oliver! Further reports have suggested that it is more commonly sporadic than inherited and that cutis marmorata telangiectatica congenita is a relatively frequent feature,' We report a sporadic case of a male infant who displayed the classic triad of this syndrome and developed a series of unusual complications resulting in his death.

skin and skull, exposing the underlying dura which was intact but covered by large tortuous blood vessels (fig. 1) There was hypoplasia of the right forefoot particularly along &helateral margin with marked tali@ equinovarus (fig. 2). The right foot length was approximathy % of the left. All toenails were dysplastic a n d relatively inconsphous. The hands were normal. The ears were normally located and normally formed although minimally enlarged. Within 24 hours, marked mottling of his entire skin consistent with cutis marmorata telangiectatica was evident (fig. 3). Karyotyping revealed a normal male chromosome pattern. Skeletal survey showed punctate epiphyseal dysplasia. Cranial and renal ultrasounds were normal. Cardiac ultrasound revealed a patent foramen ovale. To diminish the risk of haemorrhage, the abnormal tortuous vasculature in the scalp defect was surgically excised in the first 24 hours. Histology showed changes of a haemangioma. A post-operative wound infection with Pseudomonasaeruginosa developed on Day 8 and was treated with piperacillin and tobramycin according to antibiotic sensitivities. His neonatal course was also complicated by jaundice, which peaked on Day 3 with a serum bilirubin of 188 micromol/l. This was treated with three days of phototherapy. H e required four blood transfusions during this admission. He was discharged home at four weeks of age with twice

CASEREPORT A male infant was delivered at term by vaginal delivery after a normal pregnancy. Apgar scores were 9 at 1 minute and 5 at 5 minutes. No resuscitation was required. Birth weight was 2664g (10' centile). His 39 year old mother had two previous pregnancies. The first died in utero at 24 weeks gestation and was thought to have oesophageal atresia, the second ended with a spontaneous abortion at 12 weeks gestation. This infant was noted at birth to have a 10 x lOcm defect of the scalp vertex that involved both Delwyn Dyall-Smith FACD, Dermatologist. Andrew Ramsden MRCP, Pacdiatrician, Newborn Services. Simon Laurie FRACS. Plastic Surgeon, Monash Medical Centre Addms for correspondence: Dr. D. Dyall-Smith, Dermatology Department. Monash Medical Centre, Locked Bag 29, Clayton, V i c 3168.

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DELWYN DYALL-SMITH. ANDREW RAMSDEN AND SIMON LAURIE

FIGUREI-Aplasia cutis cnngenita involving skin and cranium at the scalp vertex with large tortuous blood vessels in the base.

FIC~UR 2-Hypoplasia E

of the right !orefoot with marked talipes equinovarus.

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ADAMSOLIVER SYNDROME : APLASIA CUTISCONGENITA, TERMINAL TRANSVERSE LIMB DEFECTSA N D CUTIS MARMORATA TELANGIECTATICA CONGENITA

FIGURE 4-.

Ulceration overlying a prominent vein on the

abdomen. Over the following weeks, large dilated veins developed over his abdomen with associated small areas of ulceration (fig. 4). The cutis marmorata telangiectatica persisted. Around the 10th week of life an area of swelling was noted in the centre of the dural defect. This was believed to be a mass of granulation tissue. At ten weeks of age he suffered a major arterial haemorrhage from this site which was controlled by ligation of the bleeding vessel. A blood transfusion of 70 mls of packed cells was required. A second major haemorrhage of approximately 2OOml one week later resulted in his death. Postmortem examinatioh revealed the mass, which measured 30 x 28 x 10 mm, to be necrotic cortical tissue that had herniated through a necrotic portion of the d u d membrane. Histology of abdominal skin showed a slight increase in capillary sized vessels in the dermis consistent with cutis marmorata. There were no large thick-walled blood vessels, nor was there any evidence of vasculitis or thrombosis.

FIGURE 3-Extensive marmorata telangiectatica as seen on day 1. There are no dysmorphic facial

features.

daily cleaning a n d silver sulphadiazine applications to the scalp defect. He was noted to have developed a small capillary haemangioma on the left buttock and “dry necrosis” of the left third fingertip. He was readmitted at seven weeks of age with a one week history of poor feeding and weight loss. On the day of admission he had cyanotic episodes and right sided seizures. On examination he was hypothermic and dehydrated. Investigations revealed a serum sodium of 115 mmol/L and potassium of 9.0 mmol/L. He was initially treated with intravenous hydrocortisone but investigations on admission revealed an ACTH of 4 1 5 ng/L and 17-hydroxyprogesteroneof 4.8 mmol/L. His renin and aldosterone levels were grossly elevated at greater than 55 ng/ml and greater than 33,000 pmol/l respectively. His urine sodium concentration was less than 1 mmol/L. These results were consistent with excessive sodium loss. Biochemical analysis of the head bandages removed from the exposed dura revealed an average salt loss of 5 mmol/day.

DISCUSSION Adams-Oliver syndrome is usually a sporadic disorder characterised by a variable combination of terminal transverse limb defects, aplasia cutis congenita of the vertex of the scalp and cutis marmorata telangiectatica congenita. However there are several well documented families in which it has been autosomal dominant and less frequently autosomal recessive.’ It is remarkable for its reduced penetrance and variable expression.‘ Examination of both parents of our patient, including x-rays of hands and feet was normal, suggesting this to be a sporadic case. The pathogenesis probably involves vascular disruption sequences which may be predisposed 21

DELWYN DYALL-SMITH. ANDREW RAMSDENAND SIMON LAURIE to by a single mutant gene ' h o families have been reported in which there is an association between Adams-Oliver syndrome and Poland Sequence' The latter is characterised by unilateral defects of hand, arm and chest wall muscles and bones possibly also a result of vascular impairment. The addition of cutis marmorata telangiectatica congenita to the syndrome is further support for a vascular aetiology.

spina bifida occulta, accessory nipples and cryptorchidism.' Haemangiomas, thin hypopigmented skin, hypoplastic nails and dermatoglyphic abnormalities' have also been reported. Affected children generally develop normally. T h e aplasia cutis congenita may close spontaneously, although this may be delayed by extensive cutis marmorata telangiectatica. Full thickness skin grafts may be required. Our patient unfortunately demonstrated a series of complications including infection, hyponatraemia, and necrosis of the dura which terminally resulted in herniation of the brain and fatal haemorrhage.

In Adams-Oliver syndrome the aplasia cutis congenita typically involves the vertex of the scalp, though less commonly, the parietal scalp, trunk or limbs may be affected.l It can be associated with a bony defect with large tortuous vessels in the base.' When a bony defect is present serious problems are well recognised and may include encephalocoele, meningitis and haemorrhage.'.' Hyponatraemia secondary to excessive sodium loss through the defect has not previously been recognised. This may represent leakage of CSF in our patient. Characteristically the terminal transverse limb defects are asymmetrical and affect the lower limb more often and to a greater degree than the upper limb.' The most common defects are shortening of the fingers and toes which may be associated in the foot, with loss of the terminal phalanges.' Syndactyly, club foot, absence of toes, foot, lower limb, fingers or hand have been described but are less common. Cutis marmorata telangiectatica congenita is a feature in 25% of reported cases. This tends to involve the entire skin including the scalp.6 Ulceration related to particularly large dilated vessels in the skin as occurred in our patient has not been reported before in this syndrome although it is a recognised complication of cutis marmorata telangiectati~a.~ Prominent cutaneous and subcutaneous atrophy and linear depressions overlying dilated vessels on the chest and abdomen has been described previously.' The association of terminal transverse limb defects and cutis marmorata telangiectatica without aplasia cutis congenita has been describedlO Other less commonly noted associations with his syndrome include heart defects (ventricular septa1 defect and tetralogy of Fallot):' growth retardation (less than 10th centile), cleft palate, microphthalmia, esotropia, hypoplastic right face,

REFERENCES A d a m FH, Oliver CP: Hereditary deformities in man due to arrested development. J Hered 1945; 36: 3-7. Kuster W, Lenz W. Kaariainen H, Majewski F. Congenital scalp defects with distal limb anomalies (Adams-Oliver syndrome): report of 10 cases and review of the literature. Am J Med Genetics 1988;31: 99-115. Koiffmann CP, Wajntal A. Huyke BJ, Castro RM. Congenital scalp skull defects with distal limb anomalies (Adams-Oliver syndrome - 100030): further sugastion of autosomal recessive inheritance. Am J Med Genet 1988; 29: 263-268. Shapiro SD, Escobedo MK. Terminakransverse defects with aplasia cutis congenita (Adams-Oliver syndrome). Birth DeJects 1985;21: 135-142. Der Kalustian VM. Hoyme HE., Hogg H. Entin MA, Guttmacher AE. Possible common pathogenetic mechanisms for Poland sequence and Adams-Oliver syndrome Am J Med Genet 1991;38: 69-73. Bork K, Pfeifle J. Multifocal aplasia cutis congenita, distal limb hemimelia, and cutis marmorata telangiectatica in a patient with Adams-Oliver syndrome. Br JDermatoll992; 127: 160-163. Frank RA, Frosch PJ. Adams-Oliver syndrome: cutis marmorata telangiectatica congenita with multiple anomalies. Dermatology 1993; 187: 205-208. Tonello HV. Graff RG. Florentine MF. Lacina S. Moore WD. Scalp and limb defects with cutis marmorata telangiectatica congenita. Adams-Oliver syndrome? Am J Med Genet 1988;29: 269-279. Picascia DD, Esterly NB. Cutis marmorata telangiectatica congenita: report of 22 cases. J Amer Acad Dermatol1989; 20: 1098-1104. Bjornsdottir US. Laxdal T,Bjdrnsson J. Cutis marmorata telangiectatica congenita with terminal transverse limb defects. Acta Paediatr Scand 1988;77: 780-782. David A, Rod JC, Melon-David V. Adams-Oliver syndrome associated with congenital heart defect: not a coincidence. Am J Med Genet 1991;40: 126-127.

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