Aplasia Cutis Congenita 

  • Author: Mark A Crowe, MD; Chief Editor: Dirk M Elston, MD   more...
 
Updated: Jan 8, 2010
 

Background

Aplasia cutis congenita (ACC)[1, 2, 3] is part of a heterogenous group of disorders first reported by Cordon in 1767 and is characterized by the absence of a portion of skin in a localized or widespread area at birth. It most commonly (70%) manifests as a solitary defect on the scalp, as noted in the first image below, but sometimes it may occur as multiple lesions, as shown in the second image below.

Aplasia cutis congenita on the scalp (most common Aplasia cutis congenita on the scalp (most common location) shortly after birth. Triplet areas of aplasia cutis congenita are commoTriplet areas of aplasia cutis congenita are common in infants with trisomy 13.

The lesions are noninflammatory and well demarcated, and they range in size from 0.5-10 cm. Aplasia cutis congenita may be circular, oval, linear, or stellate in configuration. At birth, the lesions may have already healed with scarring or may remain superficially eroded to deeply ulcerated, occasionally involving the dura or the meninges.

Defects in the skin that form early in gestation may heal before delivery and appear as an atrophic, membranous,[4] bullous,[5] or parchmentlike scar with associated alopecia, whereas less mature defects present as ulcerations. Most lesions occur on the scalp vertex just lateral to the midline, but defects may also occur on the face, the trunk, or the limbs, sometimes symmetrically. The depth may involve only the epidermis and the upper dermis, resulting in minimal alopecic scarring, or the defect may extend to the deep dermis, the subcutaneous tissue, or rarely the periosteum, the skull, and the dura.

Aplasia cutis congenita is most often a benign isolated defect, but it can be associated with other physical anomalies or malformation syndromes.

Frieden[1] created a classification system for aplasia cutis congenita (outlined below) consisting of 9 groups based on the number and location of the lesions and the presence or absence of associated malformations.

  • Group 1: This is scalp aplasia cutis congenita without multiple anomalies.[6] Nearly 86% of all solitary lesions occur on the scalp. A collar of hair is often seen around the defect. It can be autosomal dominant[7] or sporadic.[8]
  • Group 2: This is scalp involvement with limb anomalies.[9] Adams-Oliver syndrome[10, 11, 12, 13, 14] is a distinct subtype in which distal limb reduction abnormalities are found in association with solitary midline scalp defects. More than 15 such cases have been reported, usually with an autosomal dominant inheritance pattern and variable genetic expression. The scalp lesions tend to be large. The most common limb malformation is hypoplastic or absent distal phalanges. Other anomalies may include cutis marmorata telangiectatica congenita, hemangiomas, cranial arteriovenous malformation, skin tags, supernumerary nipples, and woolly hair.
  • Group 3: This is scalp aplasia cutis congenita with epidermal and sebaceous (organoid) nevi,[15, 16] which also involve the scalp, usually adjacent to the cutis aplasia. Some patients have also had ophthalmic and neurologic findings typical of epidermal nevus syndrome, including seizures, mental retardation, corneal opacities, and eyelid colobomas. Inheritance is sporadic.
  • Group 4: This is aplasia cutis congenita often with a hair collar overlying deeper embryologic malformations.[17, 18, 19, 20] Examples include meningomyelocele, porencephaly, leptomeningeal angiomatosis, cranial stenosis, spinal dysraphism, gastroschisis, and omphalocele. The inheritance pattern in this group varies with the associated underlying condition.
  • Group 5: This is aplasia cutis congenita associated with fetus papyraceous or placental infarct.[21, 22, 23, 24, 25] Extensive truncal and limb aplasia cutis congenita in a linear or stellate configuration is associated with the presence of fetus papyraceous. Fetus papyraceous is found at the time of delivery and results from the death of a twin fetus early in the second trimester. The surviving fetus is affected with aplasia cutis congenita and usually is otherwise normal.
  • Group 6: This is aplasia cutis congenita associated with simplex, junctional, or dystrophic types of epidermolysis bullosa (EB).[26, 27, 28] Many reports describe aplasia cutis congenita, usually occurring on the lower extremities, in patients eventually diagnosed with EB. Initially described as Bart syndrome, this type of presentation represents a variant of dystrophic EB. A subgroup includes the association of pyloric or duodenal atresia, ureteral stenosis, renal abnormalities, craniofacial abnormalities, nail dystrophy, and aplasia cutis congenita.
  • Group 7: This is aplasia cutis congenita localized to the extremities without EB.[29, 30, 31] At least 2 families have been reported in which multiple members have had extensive aplasia cutis congenita on the pretibial lower extremities and the dorsal aspects of the hands and the feet.
  • Group 8: This is aplasia cutis congenita due to teratogens. A few cases of aplasia cutis congenita have been linked to intrauterine infection with herpes simplex virus or varicella-zoster virus or to exposure to methimazole[32, 33, 34, 35] in the treatment of maternal thyrotoxicosis during pregnancy. Imperforate anus has been associated with methimazole or carbimazole exposure during gestation.
  • Group 9: This is aplasia cutis congenita associated with malformation syndromes.[36, 37] Aplasia cutis congenita has been reported as a characteristic in many syndromes and more will be reported. Various syndromes[38, 39, 40, 41] and dysplasias include trisomy 13 (Patau syndrome) with large membranous scalp defects, 4p- (Wolf-Hirschhorn) syndrome with midline scalp defects, Setleis syndrome with bitemporal aplasia cutis congenita and abnormal eyelashes, Johanson-Blizzard syndrome with stellate scalp defects, focal dermal hypoplasia (Goltz syndrome), amniotic band disruption complex, oculocerebrocutaneous (Delleman) syndrome, scalp-ear-nipple syndrome (Finlay-Mark syndrome), Kabuki syndrome,[42] and 46XY gonadal dysgenesis. Reticulolinear aplasia cutis congenita on the face and the neck is a distinctive cutaneous manifestation in several syndromes linked to Xp22.
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Pathophysiology

The skin and occasionally the underlying structures are affected in aplasia cutis congenita. Lesions are clean, sharply demarcated, and noninflammatory in appearance.

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Epidemiology

Frequency

United States

Aplasia cutis congenita is an uncommon anomaly of newborns. More than 500 cases have been reported since it was first described, but because of significant underreporting of this generally benign disorder, the precise frequency is unknown. One estimate of incidence is approximately 3 in 10,000 births.

International

The international frequency of aplasia cutis congenita is expected to be similar to that in the United States.

Mortality/Morbidity

If the defect is small, recovery is uneventful, with gradual epithelialization and formation of a hairless, atrophic scar over several weeks. Small underlying bony defects usually close spontaneously during the first year of life. Surgical repair of large or multiple scalp defects with excision and primary closure, if feasible, or with the use of tissue expanders and rotation of a flap, may be considered. Truncal and limb defects, despite their large size, usually epithelialize and form atrophic scars, which can later be revised if necessary.

Underlying or associated defects may also significantly affect mortality and morbidity. Full-thickness defects of the scalp, skull, and dura are associated with a mortality rate of greater than 50%. Even large defects on areas other than the scalp usually heal well with conservative skin care using silver sulfadiazine ointment. The rare larger scalp defects are prone to complications of hemorrhage and infection; subsequently, patients are at risk for death. Extensive aplasia cutis congenita of the scalp may be associated with an increased risk of sagittal sinus thrombosis. For these reasons, surgical intervention may be required for large, full-thickness scalp defects.

Race

No racial predilection is reported for aplasia cutis congenita.

Sex

Unless associated with an X-linked malformation syndrome, no sexual predilection exists in aplasia cutis congenita.

Age

Aplasia cutis congenita lesions are congenital.

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Contributor Information and Disclosures
Author

Mark A Crowe, MD  Assistant Clinical Instructor, Department of Medicine, Division of Dermatology, University of Washington School of Medicine

Mark A Crowe, MD is a member of the following medical societies: American Academy of Dermatology and North American Clinical Dermatologic Society

Disclosure: Nothing to disclose.

Specialty Editor Board

Bernice R Krafchik, MBChB, FRCPC  Professor Emeritus, Department of Pediatrics, Section of Dermatology, University of Toronto

Bernice R Krafchik, MBChB, FRCPC is a member of the following medical societies: American Academy of Dermatology, American Dermatological Association, Canadian Medical Association, College of Physicians and Surgeons of Ontario, Royal College of Physicians and Surgeons of Canada, and Society for Pediatric Dermatology

Disclosure: Nothing to disclose.

Michael J Wells, MD  Associate Professor, Department of Dermatology, Texas Tech University Health Sciences Center

Michael J Wells, MD is a member of the following medical societies: Alpha Omega Alpha, American Academy of Dermatology, American Medical Association, and Texas Medical Association

Disclosure: Nothing to disclose.

Van Perry, MD  Assistant Professor, Department of Medicine, Division of Dermatology, University of Texas Health Science Center

Van Perry, MD is a member of the following medical societies: American Academy of Dermatology and American Society for Laser Medicine and Surgery

Disclosure: Nothing to disclose.

Catherine M Quirk, MD  Clinical Assistant Professor, Department of Dermatology, University of Pennsylvania

Catherine M Quirk, MD is a member of the following medical societies: Alpha Omega Alpha and American Academy of Dermatology

Disclosure: Nothing to disclose.

Chief Editor

Dirk M Elston, MD  Director, Department of Dermatology, Geisinger Medical Center

Dirk M Elston, MD is a member of the following medical societies: American Academy of Dermatology

Disclosure: Nothing to disclose.

References

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Aplasia cutis congenita on the scalp (most common location) shortly after birth.
Triplet areas of aplasia cutis congenita are common in infants with trisomy 13.
This area of healed aplasia cutis congenita is located in an area of nevus flammeus. Note the collarette of coarser hair at the margin of the defect.
Extensive aplasia cutis congenita on the scalp, extending down to the skull.
Bilateral involvement of the lower extremities in aplasia cutis congenita associated with fetus papyraceous.
 
 
 
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