Familial Aplasia Cutis Congenita of Bilateral Lower Limbs: A Rare Variant of Group 7

Aplasia cutis congenita (ACC) is characterized by congenital absence of skin and has a wide clinical spectrum.While scalp involvement is most common, symmetrical limb involvement without epidermolysis bullosa (EB) or other associated anomalies is classified as Group 7 in Frieden's classification. 1 Familial cases of this phenotype are particularly rare.We report a term female neonate born to a 26-year-old gravida 2 mother by normal vaginal delivery.A previous neonate had died at 5 days of life with similar skin lesions (Figure 2) over both lower limbs, suggesting familial recurrence. 2 There was no history of consanguinity, teratogen exposure, or maternal infection.Antenatal ultrasonography showed oligohydramnios and mild right-sided pyelectasis.

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Journal
Pediatric Oncall
Published
2026-10-07
DOI
https://doi.org/10.7199/ped.oncall.2027.21
Primary Topic
Congenital limb and hand anomalies
Type
article
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article

Familial Aplasia Cutis Congenita of Bilateral Lower Limbs: A Rare Variant of Group 7

Muhammad Unais, Vishakha Indave
Pediatric Oncall
Congenital limb and hand anomalies
article

Familial Aplasia Cutis Congenita of Bilateral Lower Limbs: A Rare Variant of Group 7

Muhammad Unais, Vishakha Indave
article en

Abstract

Aplasia cutis congenita (ACC) is characterized by congenital absence of skin and has a wide clinical spectrum.While scalp involvement is most common, symmetrical limb involvement without epidermolysis bullosa (EB) or other associated anomalies is classified as Group 7 in Frieden's classification. 1 Familial cases of this phenotype are particularly rare.We report a term female neonate born to a 26-year-old gravida 2 mother by normal vaginal delivery.A previous neonate had died at 5 days of life with similar skin lesions (Figure 2) over both lower limbs, suggesting familial recurrence. 2 There was no history of consanguinity, teratogen exposure, or maternal infection.Antenatal ultrasonography showed oligohydramnios and mild right-sided pyelectasis.

Pediatric OncallVol. 24(2)
Swami Ramanand Teerth Rural Medical College (IN)
Openalex Percentile: Top 14%
Congenital limb and hand anomalies
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