Extensive form of aplasia cutis congenita: a new

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_JMed Genet 1998;35:609-611

Extensive form of aplasia cutis congenita: a new

syndrome?

Moon-Sung Park, Si-Houn Hahn, Chang-Ho Hong, Jung-Sun Kim, Haeng-Soo Kim

Abstract

Aplasiacutis congenita is a heterogeneous group of conditions usually involving the scalp as well as any other part of thebody and is associated with a number of other congenital anomalies. We report on a newborn male with almost complete absence of skin and subcutaneous tissue in association with choanal atresia, syndactyly, imperforate anus, pulmonary hypoplasia, and other anomalies. To our knowledge, this condition,not onlyin the extent of the lesion but the associated anomalies, has not been reported previ- ously.

C MedGenet1998;35:609-611)

Keywords: aplasiacutiscongenita;choanalatresia;syndactyly

Department of Paediatrics, Ajou UniversitySchool of Medicine,5

Wonchon-dong, Paldal-gu, Suwon 442-749, Korea M-S Park S-H Hahn C-HHong Department of Pathology, Ajou University School of Medicine, Suwon 442-749, Korea J-SKim Departmentof Obstetricsand Gynaecology,Ajou UniversitySchoolof Medicine,Suwon 442-749, Korea H-SKim Correspondenceto:

Dr Park.

Received 20July1997 Revised versionaccepted for publication

10December1997

Aplasia cutiscongenita(ACC)is thecongenital absence ofskin,which may occuranywhereon thebody, mostcommonlyoverthe cranialver- tex. More than 500 cases have been reported since Cordon describedthefirstcasein 1767.1 Atpresent, because thehistologicalappearance varies, diagnosis rests on the presence of eroded,absent,orscarredareasofskin atbirth.

There appears to be a cleargeneticinfluence in many cases, and itisunlikelythat all thelesions would be caused by the same mechanism.

Here, a newborn is reported who had almost entire absenceofskin,choanalatresia, syndactyly, imperforate anus,pulmonary hypoplasia, and other anomalies, which have not been described before. Several classifications ofthis heterogeneous disorderhave beenproposed,>-5 but this casedoes notfitany of them.

Casereport

Themalebabywasborn at 38 weeks' gestation with a birthweight of 1480 g (<3rd centile), a length of42 cm(<3rdcentile), ahead circumference of 33 cm (25th-50th centile), and a chest circumference of 24 cm (<3rd centile).

HisApgarscores at one andfive minuteswere 2 and 1 and he died 15 minutes after birth despite cardiopulmonaryresuscitation. He was the third child of a 35year oldwoman who had nohistory of exposure to any drugs, radiation, or infectious diseases during her pregnancy.

The parents were non-consanguineous and had nofamily history of congenital malformations or other illnesses. Raisedlevels of matenal serum and amniotic fluid alphafetoprotein were observed at 19 weeks' gestation (32 MOM and 35 MOM, normal 0.5 to 2.4 MOM,respectively). However, fetal ultrasono- gram showed no definite abnormalities and

chromosome study showed a 46,XY normal male karyotype.

Immediately after birth, almost entire absence of skin and subcutaneous tissue was noticed apart from small areas on the buttocks and right thigh. The relatively large cranium was covered with thin, transparent, membra- nous tissue and multiple small pieces of skull bones, vessels, and even brain were seen through it. He presented with choanal atresia, micrognathia,ashort,broad based tongue, and twoprenatal teeth, butno earlobes, earopen- ings, eyelids, or nasal alae (figs 1, 2, and 3).

Blood vessels, musclefibres, and ribs were seen inhis trunk and abdomen. Theumbilical cord contained two umbilical arteries and two umbilical veins. Syndactyly I-II-III-IV-V was present with stubby toes and dysplastic nails on both feet(fig 3).

The fingers had no nails. The ribs, long bones,and vertebrae showed normal contours onradiographs (fig 4). At necropsy (fig 5), the thoracic cavity showed narrowing with hypo- plasticlungs,athindiaphragm,andhepatome- galy.The trachea wasnarrow,measuring3 mm in diameter. The right kidney (3.2 g) was hypoplastic and was smaller than the left kidney (7.2 g); both testes were located in the

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Figure1 Overviewof thepatientshowedcomplete absenceofskin except on a partof the right thighand buttock.

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Park, Hahn, Hong, et al

Figure 2 Anteriorviewof the head (left) showed prenatal teethandnochoanalaperture.

Theleft lateralview of the head (right) showedno earlobe andno earcanal,and brain could beseenthroughathin,transparentmembrane which covered small pieces of skull bone.

Figure4 Postmortem radiograph showing normal long bones,ribs,andvertebrae.

Figure3 Alltoes werestubbywith dysplastic nails and syndactyly I-II-III-IV-Vwaspresentonbothfeet (below).

Nofingernailscould beseen(above).

pelvic cavity. The other organs, including the heartandbrain, showednodefinite abnormalities.

On microscopic examination, the external surface of the body showed diffuse complete absence ofalllayers of theskin;itwascovered onlyby thin fibrous tissue with loss of subcutaneous tissue (fig 6, below). The localised area with skin covering showed flattened, stratified squamous epithelium and dermis, in which there was noevidence of skinappendages (fig 6, above). The diaphragm was composed mainly of connective tissue with a small amountof skeletalmuscle fibres and mononu- clear cell infiltrates.

Figure5 Necropsy showedhypoplastic lungs associated withhepatomegalyandthindiaphragm.

Discussion

Ingeneral,ACC is defined ascongenital localised absence of skin. Lesions vary in size from pinhead to an extensive symmetrical truncal lesion6 and may be single or multiple. In the majority ofcases of ACC, the lesion involves 610

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Extensive form of aplasiacutis congenita

There have beenmanyhypotheses about the __F-6.k. - ;* pathogenesis of this disease, including the amniogenic theory,'3 vascular theory,'4 tera- togenic action of medications,'5 infectious

agents,16

" genetic factors,'8 and so on. How- ever, it is conceivable that one single factor cannotexplain the cause of the disease. Several classifications of this heterogeneous disorder have been proposed.3 5 Recently, Evers et af classified the disease as chromosomal, monogenic, teratological/exogenous, and unknown.

Since there was no history of maternal infections or drug intake during pregnancy or family history ofsimilarconditions, monogenic and teratological/exogenous causes for this case canbeexcluded. The normalkaryotypeof this patient also excluded the possibilities of trisomy 13 and 18, monosomy 4, and tetra- somy 12p. Type 5 ACC on Frieden's classification4 could be considered, but it is unlikelybecause of the absence of theexpected fetus papyraceus or macrosomic evidence of placentalabnormalities.Nevertheless, thiscase had multiple internal organ anomalies which make it difficult to fit into any classification.

Figure6 Microscopicfinding of tissuefromrightthigh, Therefore,wesuggestthat this is a newcondi- whereskin remnantsremained, showedflattened, stratified tion of ACC associated with multiple anoma- squamous epitheliumwithoutanyskinappendages (above) lies not described or classified

before.

For the and the restofthe area coveredwith thinfibroustissue

without skin(below). better classification ofACC,exact pathogenic mechanismsneedtobe described in thefuture.

onlytheepidermis, dermis,and connective tissue; however, in approximately 20% of re-

portedcasesthere isanunderlying bone defect 1 CordonM. Extrait d'une lettreausujet de trois enfantsdela

associatewiththe scalp .7 T A i meme mere nesavecpartie des extremities

denuee

depeau.

associated with thescalp lesion. TheACC> in _JMedChirPharm i767;26:556-7.

thiscase was soextensive thatonly tinyareasof 2 Evers MEJW, Steijlen PM, Hamel BCJ. Aplasia cutis

skinsKmwerewerleftleItono the buttockstne ottOCKS andna rlgn tnlgnright thigh congenita

1995-47:295-301.

and associated disorder:anupdate.

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Genet

andeventhese showed abnormal skinfindings. 3 DemmelU. Clinicalaspects ofcongenital skin defects.I.

Thisextremeform ofaplasia cutis congenita Congenital skin defects onthe head of the newborn. II.

Congenitalskin defectsonthe trunk and extremities of the canbedistinguished fromrestrictive dermopa- newborn. III. Causal and formal genesis of congenitalskin

thy, Wiedemann-Rautenstrauch syndrome, defects of the newborn.EurJ7Pediatr1975;121:21-50.

H lm Se syndrome...,Pallister-Hall 4Frieden IJ. Aplasia cutis congenita: a clinical review and

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_7

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doi: 10.1136/jmg.35.7.609

1998 35: 609-611 J Med Genet

M S Park, S H Hahn, C H Hong, et al.

new syndrome?

Extensive form of aplasia cutis congenita: a

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