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Thread: Cutis Aplasia picture - Pediatric Atlas

  1. #1

    Default Cutis Aplasia picture - Pediatric Atlas

    Pathophysiology
    The exact pathophysiology of aplasia cutis congenita is unclear. Proposed mechanisms include intrauterine trauma, vascular compromise, infection, and medications. It has been theorized that stellate or angulated lesions in particular result from vascular abnormalities or intrauterine ischemia.

    Aplasia cutis congenita is typically sporadic; however, autosomal dominant and, less commonly autosomal recessive, cases have also been reported. Mutations in ribosomal GTPase BMS1 have been identified as a potential cause of autosomal dominant ACC.Familial aplasia cutis congenita on the scalp is generally nonmembranous, whereas membranous aplasia cutis congenita of the scalp is usually sporadic.

    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 topical antibiotic 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.

    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.

    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 commonly seen with membranous aplasia cutis and is a marker for underlying defects such as encephaloceles, meningoceles, and heterotopic brain tissue. Note the images below.
    Cutis Aplasia picture Pediatric Atlas attachment.php?s=e3e4c0eebb7100a37824acef5c920510&attachmentid=310&d=1435790489

    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. This may also explain the increased incidence of aplasia cutis congenita on the vertex scalp.

    Early rupture of the amniotic membranes, forming amniotic bands, has appeared to be the cause of aplasia cutis congenita in several cases.

    The bullous or membranous variants of aplasia cutis congenita reveal a distinct histologic pattern identical to those in encephaloceles and meningoceles. This supports a hypothesis that these types of aplasia cutis may represent the form fruste of a neural tube closure defect.

    Laboratory Studies
    No specific laboratory abnormalities are consistently found in this condition. Abnormalities due to associated conditions may be present. Chromosome analysis may be indicated if a pattern of abnormalities suggests a genetic disorder.

    Elevated alpha-fetoprotein levels in maternal serum and amniotic fluid, as well as elevated acetylcholinesterase in amniotic fluid, have been reported as possible early signs of aplasia cutis congenita. However, these tests are neither sensitive nor specific and not currently used for diagnosis

    Imaging Studies
    Imaging studies are seldom required for small circular or oval aplasia cutis congenita of the scalp with no apparent associated anomalies.

    Atypical or very large scalp defects should be imaged for possible underlying bone, vascular, or soft tissue defects. In one neonate, a ventricular diverticulum of the posterior horn of the lateral ventricle was associated with aplasia cutis congenita of the scalp. It manifested as an expanding bulge of the subdural space.

    Magnetic resonance imaging of the head is recommended for evaluation of ectopic neural tissue in midline bullous or membrane scalp aplasia cutis congenita.Ultrasound imaging can be used for larger nonmembranous scalp aplasia cutis congenita to evaluate for underlying bony defects.

    Distal radial epiphyseal dysplasia associated with aplasia cutis congenita over the dorsum of the distal forearm has been reported. The cutis aplasia was diagnosed at birth but the radial dysplasia was not recognized until presentation to an orthopedist at age 5-10 years. Radiographs of the involved extremity should be performed in cases of aplasia cutis congenita involving the distal forearm.
    Cutis Aplasia picture Pediatric Atlas attachment.php?s=e3e4c0eebb7100a37824acef5c920510&attachmentid=311&d=1435790518

    The histologic features of the skin vary according to the depth of the aplasia and its duration. At birth, ulcerated lesions may show a complete absence of skin. After healing, the epidermis may appear flattened with a proliferation of fibroblasts within the connective-tissue stroma and an absence of adnexal structures. Bullous aplasia cutis congenita is a rare clinical subtype of aplasia cutis congenita with distinctive histologic findings. Histologic evaluation of such lesions reveals a distinct pattern containing fibrovascular stromas, edematous stroma, or both. Identical histologic findings are found in encephaloceles and meningoceles.

    References:
    http://emedicine.medscape.com/article/1110134-workup#c7











    Last edited by Medical Photos; 09-01-2015 at 07:25 PM.

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  3. #2

    Default Cutis Aplasia picture Pediatric Atlas

    In it something is. Thanks for an explanation. All ingenious is simple.

  4. #3
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    Hey Guys,

    I'm a brand new member, looking to learn. Perhaps some of the immense wealth of knowledge on these forums will rub off on me if I hang around for long enough.

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