Introduction: Aplasia cutis congenita (ACC) is a rare congenital disorder characterized by the localized absence of skin at birth, primarily affecting the scalp but also affecting the trunk and limbs. Nine different presentations have been reported. Group V-ACC (G-V ACC) is a rare type associated with fetus papyraceus. The pathogenesis is speculated to involve ischemia from acute hypovolemia or disseminated intravascular coagulation due to thrombotic tissue affecting the surviving twin. Management of ACC depends on lesion severity, focusing on preventing infection and promoting healing, with conservative measures in most cases and surgical intervention in some cases. The long-term prognosis for isolated G-V ACC is generally favorable unless associated with systemic complications. Case Presentation: We report a neonate diagnosed with Group G-V ACC associated with fetus papyraceus from a dichorionic diamniotic twin pregnancy. Born to a 28-year-old Asian mother, this female infant presented with extensive, healed, scar-like lesions on her flanks and upper thighs. These lesions were consistent with the “H”-shaped distribution commonly described in ACC linked to fetus papyraceus. Despite significant dermatological manifestations, the infant showed no other external abnormalities or systemic involvement, and comprehensive screenings, including ultrasounds and chromosomal microarray, were normal. Conclusion: This discussion highlights the rarity of ACC associated with fetus papyraceus, with only a few over 100 cases reported globally. This case underscores the importance of recognizing the patterns and potential complications of ACC in twins, contributing to better diagnostic acumen and management strategies for neonatal care.

Aplasia cutis congenita (ACC) was first documented by Cordon [1] in 1767. ACC in a liveborn twin associated with fetus papyraceus (FP) was first reported by Hochstetter [2] in 1893. Later, case series were reported by Ingalls [3] in 1933 and Mannino et al. [4] in 1977, highlighting the associations of ACC with FP. The first ACC classification, which included nine categories based on body location and associated abnormalities, was proposed by Frieden [5] in 1986. Frieden classified ACC into nine groups based on the location on the body and associated abnormalities (Table 1). Group-V of ACC in Frieden’s classification addressed cases linked to FP or placental infarcts. Recent studies have reaffirmed the relevance of Frieden’s classification system [6].

Table 1.

Frieden’s classification of ACC [5]

CategoryBody area affectedAssociated abnormalities
Group 1: scalp ACC without multiple anomalies Scalp, usually vertex Cleft lip and palate; tracheoesophageal fistula; double cervix and uterus; patent ductus arteriosus; omphalocele. polycystic kidney. mental retardation 
Group 2: scalp ACC with associated limb abnormalities Midline scalp Limb reduction abnormalities, syndactyly, polydactyly, clubfoot, nail dystrophy, Encephalocele, woolly hair, hemangioma, heart disease, cryptorchidism 
Group 3: Scalp ACC with associated Epidermal and organoid nevi Scalp, may be asymmetric Corneal opacities, scleral dermoid, eyelid colobomas, psychomotor retardation, seizure 
Group 4: ACC overlying embryologic Malformations Abdomen, lumbar skin, scalp, any site Meningomyeloceles congenital midline porencephaly, leptomeningeal angiomatosis, ectopia of ear, omphalocele, gastroschisis 
Group 5: ACC with associated fetus papyraceus or placental infarcts Multiple, symmetric areas, often stellate or linear, on scalp, chest, flanks. axillae, and extremities Single umbilical artery, developmental Delay, spastic paralysis, nail dystrophy, clubbed hands and feet, amniotic bands 
Group 6: ACC associated with epidermolysis bullosa (EB): Blistering, usually localized, without multiple Congenital anomalies Extremities Blistering of skin or mucous membranes, absent or deformed nails, metatarsus varus; congenital absence of kidney 
Widespread skin fragility with congenital anomalies Large areas on extremities and torso Pyloric or duodenal atresia, abnormal ears and nose, ureteral stenosis, renal abnormalities, arthrogryposis, amniotic bands, nail dystrophy 
Group 7: ACC localized to extremities without blistering Pretibial areas, dorsal aspects of hands and feet, extensor areas of wrists None 
Group 8: ACC caused by specific teratogens Scalp (with methimazole), any area (with varicella and herpes simplex infections) Imperforate anus (methimazole), signs of intrauterine infection with varicella and herpes simplex infections 
Group 9: ACC associated with malformation syndromes Scalp, any location Trisomy 13, 4p-syndrome, ectodermal Dysplasia, Johanson-Blizzard syndrome, focal dermal hypoplasia, amniotic band disruption complex, XY gonadal dysgenesis 
CategoryBody area affectedAssociated abnormalities
Group 1: scalp ACC without multiple anomalies Scalp, usually vertex Cleft lip and palate; tracheoesophageal fistula; double cervix and uterus; patent ductus arteriosus; omphalocele. polycystic kidney. mental retardation 
Group 2: scalp ACC with associated limb abnormalities Midline scalp Limb reduction abnormalities, syndactyly, polydactyly, clubfoot, nail dystrophy, Encephalocele, woolly hair, hemangioma, heart disease, cryptorchidism 
Group 3: Scalp ACC with associated Epidermal and organoid nevi Scalp, may be asymmetric Corneal opacities, scleral dermoid, eyelid colobomas, psychomotor retardation, seizure 
Group 4: ACC overlying embryologic Malformations Abdomen, lumbar skin, scalp, any site Meningomyeloceles congenital midline porencephaly, leptomeningeal angiomatosis, ectopia of ear, omphalocele, gastroschisis 
Group 5: ACC with associated fetus papyraceus or placental infarcts Multiple, symmetric areas, often stellate or linear, on scalp, chest, flanks. axillae, and extremities Single umbilical artery, developmental Delay, spastic paralysis, nail dystrophy, clubbed hands and feet, amniotic bands 
Group 6: ACC associated with epidermolysis bullosa (EB): Blistering, usually localized, without multiple Congenital anomalies Extremities Blistering of skin or mucous membranes, absent or deformed nails, metatarsus varus; congenital absence of kidney 
Widespread skin fragility with congenital anomalies Large areas on extremities and torso Pyloric or duodenal atresia, abnormal ears and nose, ureteral stenosis, renal abnormalities, arthrogryposis, amniotic bands, nail dystrophy 
Group 7: ACC localized to extremities without blistering Pretibial areas, dorsal aspects of hands and feet, extensor areas of wrists None 
Group 8: ACC caused by specific teratogens Scalp (with methimazole), any area (with varicella and herpes simplex infections) Imperforate anus (methimazole), signs of intrauterine infection with varicella and herpes simplex infections 
Group 9: ACC associated with malformation syndromes Scalp, any location Trisomy 13, 4p-syndrome, ectodermal Dysplasia, Johanson-Blizzard syndrome, focal dermal hypoplasia, amniotic band disruption complex, XY gonadal dysgenesis 

The incidence of ACC remains uncertain, with estimates ranging from 0.5 to 3 per 10,000 live births [7‒9], and the scalp is affected in more than 90% of cases [9]. The pathogenesis of ACC, particularly in association with FP, is not well understood but may involve skin ischemia due to disseminated intravascular coagulation or from shunting of blood to the low-pressure circulation of a dead fetus. The trunk and proximal extremities were the most affected areas. Systemic abnormalities are present in approximately one-third of all ACC cases, although they are less common in G-V ACC. Such abnormalities may include a single umbilical artery, developmental delay, spastic paralysis, nail dystrophy, clubbing of hands and feet, and amniotic band formation [5].

Management strategies for ACC vary based on the extent and associated complications, with more extensive lesions necessitating careful monitoring to prevent infection, electrolyte imbalances, and hypovolemia. Early intervention focuses on promoting wound healing, whereas surgical approaches may be necessary for nonhealing or complicated cases [10].

A newborn girl was evaluated in the neonatal nursery shortly after delivery due to the presence of extensive, scar-like lesions on her flanks and upper thighs. Born to a 28-year-old Asian mother at 39 weeks of gestation, the baby was part of a spontaneous twin pregnancy. Her mother, a fifth gravida, had a history of one spontaneous first-trimester abortion during her second pregnancy.

The parents were the first cousins and reported no health issues in their three living children. Ultrasound at 13 weeks confirmed dichorionic diamniotic pregnancy and absence of cardiac activity in one of the twins. Subsequent scans showed a normally developing fetus alongside a nonviable twin.

During pregnancy, the mother reported no medication use or symptoms such as fever and rash. She tested negative for Group B streptococcus and was admitted to the obstetric emergency department with labor pain. The baby girl was delivered vaginally, weighing 2.83 kg, and was vigorous at birth. Attached to the placenta was a compressed, nonviable fetal remnant measuring 6 × 2 cm (Fig. 1). The placenta weighed 460 g and appeared normal on examination.

Fig. 1.

Fetus papyraceus.

Fig. 1.

Fetus papyraceus.

Close modal

The infant presented with extensive and irregular skin lesions, characterized by a star-like appearance on both flanks, extending laterally over the gluteal area and upper thigh (Fig. 2). The lesions were symmetrical across the flanks. However, lesions on the thighs were notably milder on the left side. Her vital signs were stable, and she showed no other external abnormalities. Clinical examination of her respiratory, cardiovascular, gastrointestinal, and neurological systems revealed normal results, and no other skin abnormalities were noted, including the absence of bullous lesions.

Fig. 2.

ACC involving the flanks, buttocks and upper thighs.

Fig. 2.

ACC involving the flanks, buttocks and upper thighs.

Close modal

Given the symmetrical nature of cutaneous abnormalities and the context of twin pregnancy with FP, a diagnosis of aplasia cutis congenita group-V was made. Laboratory tests, including complete blood counts, electrolytes, and kidney and liver function tests, returned normal results. Screening for toxoplasmosis, rubella, cytomegalovirus, herpes simplex, and HIV (TORCH) yielded negative results. Ultrasonography of the brain, abdomen, and heart revealed no abnormalities.

Since the lesions healed in utero, only local emollients were prescribed. After 48 h of observation, the baby was discharged home, with referrals to pediatric dermatology and plastic surgery clinics. At the 2-week follow-up, no changes in the skin lesions or no new symptoms were observed. Her chromosomal microarray analysis was reported normal.

ACC associated with FP is a very rare type of cutis aplasia [5, 11]. Only over 100 cases have been reported in the literature [12]. G-V ACC is almost always sporadic and is typically described in monochorionic twin [5, 13]. Monochorionic twin gestation is frequently associated with vascular anastomosis between fetuses, which may result in structural anomalies, growth retardation, or death of one or both fetuses [14, 15].

Our case was dichorionic diamniotic twin gestation, as confirmed by antenatal ultrasonography. Rarely dichorionic placenta may also be affected by vascular malformations [4, 5, 16]. G-V ACC has also been reported in triplet and sextuplet pregnancies [5, 17]. Single fetal demise can occur in 2.5–6% of twin pregnancies and may result from twin-to-twin transfusion, placental abruption, placental insufficiency, or abnormalities in cord insertion [18]. When one of the fetuses becomes nonviable in the early first trimester, it is often absorbed. FP is a thin, compressed fetal remnant that results when fetal demise occurs in the late first or early second trimester [19]. Earlier researchers reported an incidence of 1/12,000 pregnancies [19]. However, with the increasing rate of multiple pregnancies induced by artificial reproductive technologies, these rates are increasing [20]. The surviving fetus is at risk of nervous system, renal, digestive system and limb anomalies, and ACC [18]. The risk is highest in monochorionic pregnancies. ACC and bowel atresia are more common when fetal demise occurs between the late first and early second trimesters [21].

The pathogenesis of G-V ACC remains unclear. Earlier researchers proposed that thrombotic tissue from a dead fetus may induce disseminated intravascular coagulation in the surviving fetus, resulting in organ ischemia, including the skin [4]. However, fetal blood sampling failed to demonstrate coagulation abnormalities [22]. Gembruch et al. [23] used Doppler ultrasonography to demonstrate acute transfusion from a surviving twin to a dying twin. Lewi et al. [24] suggested the possibility of ischemia resulting from rapid exsanguination in the low-pressure system of dead fetuses. Elevated levels of amniotic fluid alpha-fetoprotein and acetylcholine esterase have been observed in association with extensive ACC [25]. However, a similar elevation may be observed in multiple gestations or FP without ACC [25]. Mazza et al. [26] reported that ACC in the surviving fetus may be predicted by high amniotic and maternal alpha-fetoprotein, detectable acetylcholinesterase, and small abdominal circumference on prenatal ultrasound.

Skin lesions in G-V ACC are typically more extensive and symmetric [5]. The trunk and lower extremities were the sites most frequently affected. An “H”-shaped distribution involving the flanks and thighs with a connecting band above the umbilicus is typically described [17]. When co-twin demise occurs before 14 weeks of gestation, lesions typically occur on the trunk, while the extremities are involved if it occurs after 14 weeks [17]. In some cases, the chest and axillae may also be affected. Scalp lesions may also be observed, but they are rare in G-V ACC. These lesions may heal in utero, leaving membranous scars [5]. Our patient had stellate healed lesions with tiny islands in the raw areas. Associated abnormalities of G-V ACC include single umbilical artery, nail dystrophy, clubbed hands and feet, spastic paralysis, and developmental delay [5]. Our patient did not exhibit any associated structural anomalies. Clinical examination was unremarkable except for ACC. Ultrasound findings of the abdomen, brain, and heart were normal. Nevertheless, long-term neurodevelopmental follow-up is indicated.

Morphologically, the lesions are stellate patches that may be yellow with hyperpigmented or violaceous borders [27]. Stellate lesions denote a disruptive pathology rather than the more oval lesions seen on the scalp, which are mostly developmental in origin [27].

Histopathologically, the epidermis is replaced by a thin epithelium, and the dermis is fibrosed with absent adnexal structures [17]. However, histopathological examination is not usually indicated unless conditions, such as epidermolysis bullosa are suspected. Epidermolysis bullosa is an important differential diagnosis for ACC involving the trunk and extremities. In this context, the skin will be more fragile with vesicular or bullous lesions, and the family history may be positive. In doubtful cases, skin biopsy may be performed for transmission electron microscopy and immunofluorescence antigenic mapping [27].

Management depends on the type and extent of the lesion and associated abnormalities. Electrolyte abnormalities, hypovolemia, and infections may complicate large lesions. Marrow et al. [10] adopted recommendations from the burn literature. They recommended initial conservative management with sulfadiazine covered with petroleum gauze. Emollient therapy has been reported to increase subepidermal inflammatory cells, decrease necrosis, and support regeneration of the epidermis [28]. A twice-daily dressing is recommended. Our patient had healed lesions, and only local emollients were prescribed. Local or systemic antibiotics should be administered if infection is suspected. After healing, local massage is recommended. Skin grafting may be considered if there is a delay in epithelialization or if fluid and electrolyte abnormalities are difficult to correct. After the first year of life, scar revision may be performed and procedures such as dermabrasion and fractionated laser therapy may be considered in the indicated cases. Recently, Amniotic membrane dressing was successfully used in four cases of ACC [29].

In general, the prognosis of isolated G-V ACC is good, and adverse outcomes are most likely related to associated abnormalities [30]. Large lesions involving the extremities may cause joint contractures, necessitating the early involvement of occupational and physiotherapists.

Here, we report a rare type of ACC associated with FP. G-V ACC presenting with extensive lesions involving the trunk and lower extremities. Large lesions pose the risk of electrolyte imbalance, hypovolemia, and infections. Management and prognosis depend on site, extent, gestational age, and associated abnormalities. In most cases, initial Conservative management with emollients and dressing can be attempted. Some patients may require early surgical management because of exposure of vital organs, delayed epithelization, or other complications. Isolated G-V ACC has good prognosis. The CARE Checklist has been completed by the authors for this case report, attached as online supplementary material (for all online suppl. material, see https://doi.org/10.1159/000541676).

We extend our gratitude to the patient’s parents for their cooperation and consent, which were invaluable for the completion of this case report.

Written informed consent for photography and publication was obtained from the mother. The study was registered at the Medical Research Centre of Hamad Medial Corporation, Qatar (No. MRC-04-24-252). Ethical approval is not required for this study in accordance with local or national guidelines.

The authors have no conflicts of interest to declare.

This study was not supported by any sponsor or funding.

A.P.V. identified the case and drafted and critically revised the manuscript. R.P.V. assisted with data gathering, literature review, and manuscript writing. H.K. helped in gathering clinical images data and literature review. A.H.T. managed the patients’ care and contributed to the relevant manuscript sections. K.S. supervised the study. All authors have approved the final manuscript and agree to be accountable for all aspects of this work.

All data generated or analyzed during this study are included in this article and its online supplementary material. Further inquiries can be directed to the corresponding author.

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