Aplasia cutis congenita. A follow-up evaluation after 25 years

Abstract

Aplasia cutis congenita is a rare disease with less than 300 cases reported in the literature. A patient with extensive involvement of the skin was observed for 25 years. During adolescence, a reactive depression related to the residual cicatricial alopecia on the left side of the scalp developed. The psychiatric distress disappeared after corrective surgery was performed. It is recommended that patients with this disorder be regularly observed to select cases appropriate for early plastic surgery.

Duodenal Atresia, Biliary Atresia, and Intestinal Infarct in Truncal Aplasia Cutis Congenita

“…Incomplete closure of the neural tube is suggested to explain midline lesions, but this theory does not account for truncal or limb defects (3). The vascular theory suggests that there is vascular insufficiency to the skin, perhaps from placental compromise or thromboplastic material from a fetus papyraceus (6)(7)(8). The amniogenic theory suggests that amniotic membrane adhered to fetal skin leads to ACC (9).…”

Duodenal Atresia, Biliary Atresia, and Intestinal Infarct in Truncal Aplasia Cutis Congenita

“…Incomplete closure of the neural tube is suggested to explain midline lesions, but this theory does not account for truncal or limb defects (3). The vascular theory suggests that there is vascular insufficiency to the skin, perhaps from placental compromise or thromboplastic material from a fetus papyraceus (6)(7)(8). The amniogenic theory suggests that amniotic membrane adhered to fetal skin leads to ACC (9).…”

Familial Epidermolysis Bullosa With Aplasia Cutis Congenita: Bart's Syndrome?

“…ACC, which may be associated with EB, was first reported in 1767. It is a rare condition characterized by well‐circumscribed areas of congenital absence of skin, most commonly affecting the scalp with small, single, midline, posterior ulcers 4–6 . There is no sex predilection and the malformation may be limited to the epidermis, involve the full thickness of the skin, or include bone defects as well 1,7–10 .…”

“…Obstetricians and pediatricians must be familiar with the clinical findings described here to avoid the common suspicion of birth trauma (and all the legal aspects involved) and intempestive therapies 8 . Careful monitoring and conservative management are appropriate including protection of the skin with the use of atraumatic dressings, since lesions tend to heal spontaneously in a few days, leaving a residual scar 4,13 . When associated with EB, attention should be given to prevention of trauma.…”

Scalp Aplasia Cutis Congenita Presenting With Sagittal Sinus Hemorrhage

“…[15][16][17][18][19][20] If the defect involves the skull, repairing it with a skin graft can be problematic, because the direct application of splitthickness skin to the dura may preclude or retard spontaneous closure of the bony defect. 7,17,21,22 The growing brain will exert expanding forces on the graft, which may lead to graft atrophy or breakdown. Subsequently, acrocephaly may result owing to delayed or failed ossification of the fontanels.…”

Duodenal Atresia, Biliary Atresia, and Intestinal Infarct in Truncal Aplasia Cutis Congenita

“…Incomplete closure of the neural tube is suggested to explain midline lesions, but this theory does not account for truncal or limb defects (3). The vascular theory suggests that there is vascular insufficiency to the skin, perhaps from placental compromise or thromboplastic material from a fetus papyraceus (6)(7)(8). The amniogenic theory suggests that amniotic membrane adhered to fetal skin leads to ACC (9).…”

Familial Epidermolysis Bullosa With Aplasia Cutis Congenita: Bart's Syndrome?

“…ACC, which may be associated with EB, was first reported in 1767. It is a rare condition characterized by well‐circumscribed areas of congenital absence of skin, most commonly affecting the scalp with small, single, midline, posterior ulcers 4–6 . There is no sex predilection and the malformation may be limited to the epidermis, involve the full thickness of the skin, or include bone defects as well 1,7–10 .…”

“…Obstetricians and pediatricians must be familiar with the clinical findings described here to avoid the common suspicion of birth trauma (and all the legal aspects involved) and intempestive therapies 8 . Careful monitoring and conservative management are appropriate including protection of the skin with the use of atraumatic dressings, since lesions tend to heal spontaneously in a few days, leaving a residual scar 4,13 . When associated with EB, attention should be given to prevention of trauma.…”

Scalp Aplasia Cutis Congenita Presenting With Sagittal Sinus Hemorrhage

“…[15][16][17][18][19][20] If the defect involves the skull, repairing it with a skin graft can be problematic, because the direct application of splitthickness skin to the dura may preclude or retard spontaneous closure of the bony defect. 7,17,21,22 The growing brain will exert expanding forces on the graft, which may lead to graft atrophy or breakdown. Subsequently, acrocephaly may result owing to delayed or failed ossification of the fontanels.…”

Duodenal Atresia, Biliary Atresia, and Intestinal Infarct in Truncal Aplasia Cutis Congenita

“…Incomplete closure of the neural tube is suggested to explain midline lesions, but this theory does not account for truncal or limb defects (3). The vascular theory suggests that there is vascular insufficiency to the skin, perhaps from placental compromise or thromboplastic material from a fetus papyraceus (6)(7)(8). The amniogenic theory suggests that amniotic membrane adhered to fetal skin leads to ACC (9).…”

Familial Epidermolysis Bullosa With Aplasia Cutis Congenita: Bart's Syndrome?

“…ACC, which may be associated with EB, was first reported in 1767. It is a rare condition characterized by well‐circumscribed areas of congenital absence of skin, most commonly affecting the scalp with small, single, midline, posterior ulcers 4–6 . There is no sex predilection and the malformation may be limited to the epidermis, involve the full thickness of the skin, or include bone defects as well 1,7–10 .…”

“…Obstetricians and pediatricians must be familiar with the clinical findings described here to avoid the common suspicion of birth trauma (and all the legal aspects involved) and intempestive therapies 8 . Careful monitoring and conservative management are appropriate including protection of the skin with the use of atraumatic dressings, since lesions tend to heal spontaneously in a few days, leaving a residual scar 4,13 . When associated with EB, attention should be given to prevention of trauma.…”

Scalp Aplasia Cutis Congenita Presenting With Sagittal Sinus Hemorrhage

“…[15][16][17][18][19][20] If the defect involves the skull, repairing it with a skin graft can be problematic, because the direct application of splitthickness skin to the dura may preclude or retard spontaneous closure of the bony defect. 7,17,21,22 The growing brain will exert expanding forces on the graft, which may lead to graft atrophy or breakdown. Subsequently, acrocephaly may result owing to delayed or failed ossification of the fontanels.…”