Aplasia cutis congenita with skull defect in a monozygotic twin after exposure to methimazole in utero

Iwayama, Hideyuki; Hosono, Haruki; Yamamoto, Hitoshi; Oshiro, Makoto; Ueda, Norishi

doi:10.1002/bdra.20395

Cited by 35 publications

(22 citation statements)

References 30 publications

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“…In addition to our Danish Registry study (11) to be discussed below, a total of 91 reports were read in detail, and 24 cases with ATD-associated birth defects where shifts in ATD therapy (start/stop of therapy or shifts between MMI/CMZ and PTU) had occurred during gestational weeks 1-10 were identified in 16 of the 91 publications (7,8,10,23,24,25,26,27,28,29,30,31,32,33,34,35). Published gestational week (calculated from the 1st day of the last menstrual period) when start or stop of ATD treatment had occurred was retrieved from these publications.…”

Section: Shift Between Therapies In Early Pregnancymentioning

confidence: 99%

THERAPY OF ENDOCRINE DISEASE: Antithyroid drug use in early pregnancy and birth defects: time windows of relative safety and high risk?

Laurberg

Andersen

2014

European Journal of Endocrinology

105

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Background: Antithyroid drugs (ATDs) may have teratogenic effects when used in early pregnancy. Objective: To review the association between the time period of ATD exposure in early pregnancy and the development of birth defects. Methods: We identified publications on birth defects after early pregnancy exposure to the ATDs methimazole (MMI; and its prodrug carbimazole (CMZ)) and propylthiouracil (PTU). Cases of birth defects after ATD treatment had been initiated or terminated within the first 10 weeks of pregnancy were identified and studied in detail. Results: A total of 92 publications were read in detail. Two recent large controlled studies showed ATD-associated birth defects in 2-3% of exposed children, and MMI/CMZ-associated defects were often severe. Out of the total number of publications, 17 included cases of birth defects with early pregnancy stop/start of ATD treatment, and these cases suggested that the high risk was confined to gestational weeks 6-10, which is the major period of organogenesis. Thus, the cases reported suggest that the risk of birth defects could be minimized if pregnant women terminate ATD intake before gestational week 6. Conclusion: Both MMI and PTU use in early pregnancy may lead to birth defects in 2-3% of the exposed children. MMI-associated defects are often severe. Proposals are given on how to minimize the risk of birth defects in fertile women treated for hyperthyroidism with ATDs.

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Section: Shift Between Therapies In Early Pregnancymentioning

confidence: 99%

THERAPY OF ENDOCRINE DISEASE: Antithyroid drug use in early pregnancy and birth defects: time windows of relative safety and high risk?

Laurberg

Andersen

2014

European Journal of Endocrinology

105

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“…However, most of these cases have either identifiable potential causes [4][5][6][7][8] or other associated anomalies, such as limb abnormalities consistent with Adams-Oliver Syndrome, 9,10 or other areas of ACC. 11 Of the cases without identifiable causes or other associated problems, none of the patients had a solitary area of scalp ACC that was as extensive as the patient we present.…”

Section: Discussionmentioning

confidence: 99%

A case of extensive Aplasia Cutis Congenita with underlying skull defect and central nervous system malformation: discussion of large skin defects, complications, treatment and outcome

2009

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Aplasia Cutis Congenita (ACC) is a rare condition characterized by the absence of a portion of skin at birth. Skin defects are usually small (0.5 to 3 cm) and located on the scalp. Although there can be other physical or genetic abnormalities, ACC is most often a benign isolated condition. Rarely is an underlying bony defect present, and this association increases the rate of complications. We report a case of a newborn male with ACC of the entire crown and vertex scalp, non-ossified parietal skull and dysplastic corpus callosum. The patient's skull and skin defects were treated non-surgically, and he recovered well.

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“…Other threats to survival include thrombosis of the superior sagittal sinus [26], meningitis [25], sepsis [27], local infection [2,18,19,24,28], CSF leak [25,29,30], and hyponatremia [13,17]. Defects in the dura may also allow herniation or prolapse of the brain with mechanical injury to the parenchyma [3,25,29,30,31,32] and cerebral necrosis [17].…”

Section: Risksmentioning

confidence: 99%

“…Substitutes for split-thickness skin grafts have been used in dealing with the scalp defects but are most useful for secondary deformities resulting from scalp rotations, including: Biobrane®, cultured epithelial autographs, Dermal Regeneration Template [53,54], composite graft of cultured autologous fibroblasts and keratinocytes [55], acellular dermal graft with cultured epithelial autografts [56,57], recombinant human fibroblast graft (Trafermin®) [28], petrolatum dressings [28], and silicone elastomer membrane [39]. In both our patients, the donor sites resulting from the rotation of the scalp flaps and the original abdominal skin defects were managed temporarily with Biobrane® and later definitively covered with cultured epithelial cell autografts harvested from the groin.…”

Section: Management Of Scalp Defectsmentioning

confidence: 99%

Aplasia Cutis Congenita of the Scalp, Composite Type: The Criticality and Inseparability of Neurosurgical and Plastic Surgical Management

Winston

Ketch²

2016

Pediatr Neurosurg

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Background/Aims: The object of this report is to review the management of patients having the composite type of aplasia cutis congenita in the context of the relevant literature on this condition. Methods: Clinical records, neuroimaging and photographic documentation of identified cases of composite type aplasia cutis congenita, with a comprehensive review of the literature, are the material basis of this report. Results: Two neonates with composite type aplasia cutis congenita are described as examples of this disorder, and their management, including complications, is discussed. Both had satisfactory outcomes. Conclusions: Early aggressive surgical management with scalp rotation flaps has a low rate of complications, provides satisfactory functional and esthetic outcome, minimizes hospital stays, and should provide cost-effective care by reduction of the time to secure wound closure. Most bony defects, even large ones, commonly ossify completely. Optimal case management requires a synchronized neurosurgical and plastic surgical team. Intuitive nonsurgical and surgical approaches by the inexperienced can be hazardous.

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Aplasia cutis congenita with skull defect in a monozygotic twin after exposure to methimazole in utero

Abstract: We describe a rare case of a monozygotic twin with ACC and skull defect after methimazole exposure in utero. The findings of our case suggest that methimazole is a potential teratogen of ACC.

Cited by 35 publications

References 30 publications

THERAPY OF ENDOCRINE DISEASE: Antithyroid drug use in early pregnancy and birth defects: time windows of relative safety and high risk?

THERAPY OF ENDOCRINE DISEASE: Antithyroid drug use in early pregnancy and birth defects: time windows of relative safety and high risk?

A case of extensive Aplasia Cutis Congenita with underlying skull defect and central nervous system malformation: discussion of large skin defects, complications, treatment and outcome

Aplasia Cutis Congenita of the Scalp, Composite Type: The Criticality and Inseparability of Neurosurgical and Plastic Surgical Management

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