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Aplasia Cutis Congenita

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Aplasia Cutis Congenita Aplasia Cutis Congenita Aplasia cutis congenita (ACC) is a clinical description of the i. Group IX: ACC associated with malformation syn- absence of the skin at birth, first described by Cordon in 1767. dromes It is a heterogeneous group of disorders characterized by i. Trisomy 13 absence of epidermis, dermis, and, sometimes, subcutaneous ii. Trisomy 18 tissue, muscle, or bone on one or more parts of the body. The iii. Monosomy 4 incidence is estimated to be 1 in 10,000 births. iv. Ectodermal dysplasias v. Johanson-Blizzard syndrome GENETICS/BASIC DEFECTS vi. Focal dermal hypoplasia vii. 46,XY gonadal dysgenesis 1. Etiological theories viii. Amniotic band disruption complex a. Amniogenic theory 3. Aplasia cutis congenita associated with epidermolytic i. Adhesion of the amniotic membrane to the bullosa fetal skin might tear off, leaving absent areas a. Simplex of skin i. An autosomal dominant disorder ii. Not supported by the study of placentas because ii. Lysis of the epidermis occurring within the cyto- most placentas are normal plasm of the basal cell layer b. Vascular theory: assumes thromboplastic material b. Junctional from a fetus papyraceus (mummified dead fetus) as i. An autosomal recessive disorder the causes of skin damage ii. Damage at the level of the lamina lucida c. Placental abnormalities c. Dystrophic (scarring) d. Biomechanical forces on the vertex during the i. An autosomal dominant or recessive disorder embryogenesis ii. Defect situated in the anchoring fibrils attaching e. Intrauterine trauma: a history of trauma in only a the basal lamina to the dermis minority of cases f. Intrauterine infections i. Varicella CLINICAL FEATURES ii. Herpes simplex 1. Aplasia cutis of the scalp (aplasia cutis vertices) g. Intrauterine involution of a hemangioma a. The most common form h. Teratogens b. Single or multiple noninflammatory ulcers i. Methimazole c. Occurrence at or near the scalp vertex ii. Misoprostol d. Variable in shape and size i. Genetic factors e. Heals leaving a hairless scar 2. Frieden’s classification of aplasia cutis congenita f. Occurrence a. Group I: ACC of the scalp without multiple anom- i. An isolated condition alies: sporadic occurrence or autosomal dominant ii. Associated with other congenital abnormalities inheritance 2. Aplasia cutis with extracranial symmetrical involve- b. Group II: ACC of the scalp with associated limb ment (a distinctive type of “nonscalp” aplasia cutis con- abnormalities: autosomal dominant inheritance genita) c. Group III: ACC of the scalp with associated epider- a. Linear lesions with a symmetrical pattern of distribu- mal, organoid nevus, or epidermal nevus syndrome: tion on the trunk and limbs sporadic occurrence b. Aplasia cutis with fetus papyraceous: usually associ- d. Group IV: ACC overlying embryologic malforma- ated with in utero death of a monozygotic twin dur- tions: inheritance depending on underlying conditions ing pregnancy, with or without the presence of a e. Group V: ACC with associated fetus papyraceous or fetus papyraceous (persistence of a mummified dead placental infarcts: sporadic occurrence fetus) f. Group VI: ACC associated with epidermolysis c. Other terms bullosa: autosomal dominant or recessive inheri- i. Truncal aplasia cutis tance depending on the type of the epidermolysis ii. Bilateral abdominal aplasia cutis bullosa 3. Associated congenital anomalies g. Group VII: ACC localized to extremities without blis- a. Craniofacial anomalies tering: autosomal dominant or recessive inheritance i. Microphthalmia h. Group VIII: ACC caused by specific teratogens: scalp ii. Colobomas (methimazole), any area (varicella, H. simplex) iii. Myopia 70 APLASIA CUTIS CONGENITA 71 iv. Epibulbar dermoid 5. Amniotic fluid findings in some cases v. Cleft lip a. Elevated amniotic fluid AFP levels vi. Cleft palate b. Positive acetylcholinesterase vii. Ear malformations b. CNS malformation GENETIC COUNSELING i. Hydrocephalus ii. Mental retardation 1. Recurrence risk iii. Spastic paralysis a. Patient’s sib c. Ectodermal dysplasia i. Autosomal dominant: not increased unless a par- i. Hypoplasia of the teeth ent is affected ii. Delayed dentition ii. Autosomal recessive: 25% iii. Nail hypoplasia b. Patient’s offspring iv. Skin blisters i. Autosomal dominant: 50% v. Skin hyperpigmentation ii. Autosomal recessive: not increased unless the vi. Cutis marmorata spouse is a carrier d. Gastrointestinal abnormalities 2. Prenatal diagnosis i. Tracheoesophageal fistula/esophageal atresia a. Ultrasonography for at risk family with aplasia cutis ii. Omphalocele congenita associated with epidermolysis bullosa and iii. Gastroschisis pyloric atresia iv. Pyloric atresia: especially in association with i. Hydramnios junctional (atrophicans) type of epidermolysis ii. A dilated stomach bullosa iii. A deformed external ear v. Ileal atresia iv. A contracted fisted hand vi. Mesenteric herniation b. Amniocentesis for associated chromosomal abnor- vii. Biliary atresia mality viii. Midgut atresia 3. Management ix. Intestinal lymphangiectasia a. Careful and standard wound treatment for small e. Musculoskeletal abnormalities defects involving only epidermis: usually uneventful i. Arthrogryposis healing of the lesion ii. Polydactyly b. Control of infection iii. Syndactyly c. Control of electrolyte abnormalities, especially with 4. Prognosis larger wounds a. Scalp lesion (1–3 cm): resolves spontaneously in d. Requires a scalp flap for most lesions majority of cases (>85%) e. A split-thickness skin grafting or full-thickness pedi- b. Prognosis usually determined by underlying anom- cle grafts (for defects of the scalp extending to the alies and extent of the lesions dura mater) f. Reconstruction of skull and scalp for a large lesion involving scalp, skull, and dura DIAGNOSTIC INVESTIGATIONS g. Emergency intervention to control life-threatening 1. Imaging hemorrhage a. Radiography h. Surgical intervention also useful later in life for revi- i. Scalp/skull sion of scars and correction of alopecia with rotation ii. Hands flaps, simple excision and closure, scalp reduction iii. Feet techniques, or local hair transplantation b. CT scan or MRI of the brain i. Management of associated anomalies 2. Karyotyping to detect chromosome abnormality 3. Histology: heterogeneous appearance of lesions REFERENCES a. Ulcerated lesions at birth Achiron R, Hamel-Pinchas O, Engelberg S, et al.: Aplasia cutis congenita asso- i. Complete absence of all layers of skin ciated with Epidermolysis bullosa and pyloric atresia: the diagnostic role ii. Occasionally extending to the bone or dura of prenatal ultrasonography. Prenat Diagn 12:765–771, 1992. b. In utero healing of some lesions Al-Sawan RMZ, Soni AL, Al-Kobrosly AM, et al.: Truncal aplasia cutis con- c. Healed lesions genita associated with ileal atresia and mesenteric defect. Pediatr i. Flattened epidermis Dermatol 16:408–409, 1999. Argenta LC, Dingman RO: Total reconstruction of aplasia cutis congenita ii. Proliferation of fibroblasts in a loose connective involving scalp, skull, and dura. Plast Reconstr Surg 77:650–653, 1986. tissue stroma Boente MC, Frontini MV, Acosta MI, et al.: Extensive symmetric truncal apla- iii. Newly formed capillaries sia cutis congenita without fetus papyraceous or macroscopic evidence of iv. Complete absence of adnexal structures placental abnormalities. Prenat Diagn 12:228–230, 1995. Cambiaghi S, Gelmetti C, Nicolini U: Prenatal findings in membranous apla- 4. Culture/serology sia cutis. J Am Acad Dermatol 39:638–640, 1998. a. Varicella zoster Cambiaghi S, Schiera A, Tasin L, et al.: Aplasia cutis congenita in surviving co- b. H. simplex virus twins: four unrelated cases. Pediatr Dermatol 18:511–515, 2001. 72 APLASIA CUTIS CONGENITA Carmi R, Sfer S, Karplus M, et al.: Aplasia cutis congenita in two sibs discor- Fonseca W, Alencar Am J Cardiol, Pereira RMM, et al.: Congenital malforma- dant for pyloric atresia. Am J Med Genet 11:319–329, 1982. tion of the scalp and cranium after failed first trimester abortion attempt Chitnis MR, Carachi R, Galea P. Familial aplasia cutis congenita. Eur J Pediatr with Misoprostol. Clin Dysmorphol 2:76–80, 1993. Surg 35:100–101, 1996. Frieden U: Aplasia cutis congenita: a clinical review and proposal for classifi- Classen DA: Aplasia cutis congenita associated with fetus papyraceous. Cutis cation. J Am Acad Dermatol 14:646–660, 1986. 64:104–106, 1999. Gerber M, de Veciana M, Towers CV, et al.: Aplasia cutis congenita: a rare Cowton JAL, Beattie TJ, Gibson AAM, et al.: Epidermolysis bullosa in associ- cause of elevated alpha-fetoprotein levels. Am J Obstet Gynecol ation with aplasia cutis congenita and pyloric atresia. Acta Paediatr Scand 172:1040-1041, 1995. 71:155–160, 1982. Irons GB, Olson RM: Aplasia cutis congenita. Plast Reconstr Surg 66:199–203, Cordon M: Extrait d’une lettre au sujet de trois enfants de la même mère né avec 1980. partie des extrémités denuée de peau. J Med Chir Pharm 26:556–557, 1767. Joshi RK, Majeed-Saidan MA, Abanmi A, et al.: Aplasia cutis congenita with De Groot WG, Postuma R, Hunter AGW: Familial pyloric atresia associated fetus papyraceous. J Am Acad Dermatol 25:1083–1085, 1991. with epidermolysis bullosa. J Pediatr 92:429–431, 1978. Kelly BJ, Samolitis NJ, Xie DL, et al.: Aplasia cutis congenita of the trunk with Demmel U: Clinical aspects of congenital skin defects. I. Congenital skin fetus papyraceus. Pediatr Dermatol 19:326–329, 2002. defects on the head of the newborn. II. Congenital skin defects on the Kosnik EJ, Sayers MP: Congenital scalp defects: aplasia cutis congenita.
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