Aplasia Cutis Congenita Clinical Presentation

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

History

  • History should include a review of maternal medications taken during the pregnancy and evidence of infections such with varicella or herpes viruses. Because many forms of aplasia cutis congenita are inherited, a thorough family history is important.
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Physical

  • Aplasia cutis congenita diagnosis is made on the basis of physical findings indicative of an in utero disruption of skin development. Most lesions occur on the scalp lateral to the midline, but they may also occur on the face, the trunk, or the limbs, sometimes symmetrically.
  • The lesions are noninflammatory and well demarcated. The appearance of the lesions varies, depending on when they occur during intrauterine development. Lesions that form early in gestation may heal before delivery and appear as an atrophic, membranous, parchmentlike or fibrotic alopecic scar, whereas less mature defects may present as an ulceration of variable depth. With only the epidermis and the upper dermis involved, minimal alopecic scarring may result, but deeper defects may extend through the dermis, the subcutaneous tissue, and rarely the periosteum, the skull, or the dura. Distorted hair growth around a scalp lesion, known as the hair collar sign, is a marker for underlying defects. Note the 2 images below. This area of healed aplasia cutis congenita is locThis 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, exExtensive aplasia cutis congenita on the scalp, extending down to the skull.
  • A bullous variant of aplasia cutis congenita manifesting as a tense yellow vesicle on the scalp has been reported.
  • A complete physical examination should be performed to search for associated physical anomalies or recognizable malformation syndromes. Note an example in the image below. Bilateral involvement of the lower extremities in Bilateral involvement of the lower extremities in aplasia cutis congenita associated with fetus papyraceous.
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Causes

  • No unifying theory can account for all lesions of aplasia cutis congenita. Because this condition is the phenotypic result of more than one disease process, it is likely that more than one mechanism is involved. Mechanisms include genetic factors, teratogens (eg, methimazole, carbimazole, misoprostol, valproic acid), compromised vasculature to the skin, and trauma. Of particular note is the association of fetus papyraceous with bilaterally symmetric aplasia cutis congenita.
  • The proximity of scalp aplasia cutis congenita to the scalp hair whorl, which is thought to be the point of maximum tensile force during rapid brain growth, has led to the hypothesis that tension-induced disruption of the overlying skin occurs at 10-15 weeks of gestation when hair direction, patterning, and rapid brain growth occur.
  • Early rupture of the amniotic membranes, forming amniotic bands, has appeared to be the cause of aplasia cutis congenita in several cases.
  • The bullous variant of aplasia cutis congenita reveals a distinct histologic pattern identical to those in encephaloceles and meningoceles. This supports a hypothesis that this variant of aplasia cutis may represent the form fruste of a neural tube closure defect.
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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.

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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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