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Guanming Li,1 Airun Zhang,1 Silan Yang,2 Niyang Lin,2 Xiaoyi Fang1 1Department of Neonatology, Seventh Affiliated Hospital, Sun Yat-sen University, Shenzhen, People’s Republic of China; 2Department of Neonatology, First Affiliated Hospital, Shantou University Medical College, Shantou, People’s Republic of ChinaCorrespondence: Xiaoyi Fang, Department of Neonatology, Seventh Affiliated Hospital, Sun Yat-sen University, No. 628, Zhenyuan Road, Guangming District, Shenzhen, Guangdong, 518107, People’s Republic of China, Tel +86-18923451061, Email fangxy29@mail.sysu.edu.cnAbstract: Aplasia cutis congenita (ACC) is a rare disease with an unclear pathogenic mechanism. ACC has been suggested to result from the disrupted development or degeneration of skin in the uterus. This study describes two cases that may have underlying pathogenic cause that have not been previously reported. Two neonates who were admitted to the neonatal intensive care unit due to “skin lesions on the limbs” without other deformities or complications were diagnosed with type VII ACC by dermatologist. The mothers showed positivity for hepatitis B virus (HBV) surface antigen and elevated level of HBV DNA copies, which may be related to ACC. But this association could be a coincidence. Both neonates were treated with antibacterial dressings and achieved satisfactory healing.Keywords: aplasia cutis congenita, case report, hepatitis B virus, newborn, skin defect

Aplasia cutis congenita is a rare malformation characterized by focal or extensive absence of epidermis, dermis, and occasionally subcutaneous tissue. Congenital Volkmann's ischemic contracture is a rare neonatal compartment syndrome caused by intrauterine ischemia and external compression. This is a challenging case for an occupational therapist (OT) focusing on the improvement of hand deformities and function in a child. The objective was to assess the effectiveness of occupational therapy intervention in correcting contracture and improving hand movement. A 4-day-old male child from the neonatal intensive care unit, presented with absence of skin over the right forearm with contracture of right hand, ulnar deviation, and skin discoloration over right hand. Patient was assessed for movement, strength, and level of contracture. Treatment was focused on correcting contracture, improving hand movements, and maintaining skin integrity with the help of splinting and therapeutic exercises. A significant improvement was seen in finger ranges, wrist ranges, hand movements, and skin color. To conclude, splinting techniques helped to stretch out contracture and correct the position of the hand and improvement in hand function. [ABSTRACT FROM AUTHOR]

Abstract Background Aplasia cutis congenita is regarded as congenital focal absence of skin in the newborn, and occurrence of more than three similar skin defects is rare. The etiology is thought to be multifactorial, and precise etiopathogenesis is unknown. Case presentation A 13-day-old newborn Sri Lankan Tamil girl was referred to the dermatologic clinic with multiple skin defects at birth. There were six lesions on the body, and two of them had healed during intrauterine period, leaving scars. This was a second twin of her pregnancy. Her first twin fetus had demised before 19 weeks of pregnancy and was confirmed to be fetus papyraceous based on ultrasound-guided fetal assessment. The said child was thoroughly investigated and found to have no other congenital abnormalities. Chromosomal studies yielded normal findings. She was treated with tropical antibacterial ointment, and all lesions resolved spontaneously within 4 weeks, leaving scars. Physiotherapy was commenced to prevent contracture formation, and follow-up was arranged in collaboration with the plastic surgical team. Conclusions Aplasia cutis congenita is a rare condition of uncertain etiology, but consanguinity may play a role. This report described a newborn with type V cutis aplasia congenita in whom the diagnosis was confirmed based on clinical features and revision of antenatal history. The management depends on the pattern, extent, location, severity, underlying causes, and associated anomalies.

We report a neonate presenting with a large scalp defect with hypoplasia of underlying frontal and parietal bones. It fits into the description of a severe form of aplasia cutis congenital with hypocalvaria.

ACC is divided into nine subgroups by Frieden and includes Bart syndrome, also known as type 6, aplasia cutis localized to the extremities, epidermolysis bullosa, and nail anomalies.2 The diagnosis is made clinically, and sometimes, it is supported histopathologically and genetically. Keywords: aplasia cutis congenital; Bart syndrome; mechanobullous disorder EN aplasia cutis congenital Bart syndrome mechanobullous disorder 3603 3605 3 08/09/22 20220801 NES 220801 CONFLICT OF INTEREST None to declare. Bart syndrome is a rare disease that should be considered in patients with ACC and bullous lesions. [Extracted from the article]

Background: Aplasia cutis congenita is regarded as congenital focal absence of skin in the newborn, and occurrence of more than three similar skin defects is rare. The etiology is thought to be multifactorial, and precise etiopathogenesis is unknown.Case Presentation: A 13-day-old newborn Sri Lankan Tamil girl was referred to the dermatologic clinic with multiple skin defects at birth. There were six lesions on the body, and two of them had healed during intrauterine period, leaving scars. This was a second twin of her pregnancy. Her first twin fetus had demised before 19 weeks of pregnancy and was confirmed to be fetus papyraceous based on ultrasound-guided fetal assessment. The said child was thoroughly investigated and found to have no other congenital abnormalities. Chromosomal studies yielded normal findings. She was treated with tropical antibacterial ointment, and all lesions resolved spontaneously within 4 weeks, leaving scars. Physiotherapy was commenced to prevent contracture formation, and follow-up was arranged in collaboration with the plastic surgical team.Conclusions: Aplasia cutis congenita is a rare condition of uncertain etiology, but consanguinity may play a role. This report described a newborn with type V cutis aplasia congenita in whom the diagnosis was confirmed based on clinical features and revision of antenatal history. The management depends on the pattern, extent, location, severity, underlying causes, and associated anomalies. [ABSTRACT FROM AUTHOR]

Aplasia cutis congenita (ACC) is a heterogeneous group of disorders characterized by localized or widespread absence of skin. ACC can occur isolated or as part of a syndrome. Here we report two consanguineous families, each with two affected offspring. Affected individuals showed widespread ACC while the skin in between had a normal appearance. Ears and nose of the four patients were underdeveloped, otherwise there were no unusual physical characteristics and no internal organ anomalies. "Whole" exome sequencing (WES) of the mother of Family 1 yielded a pathogenic heterozygote variant in ITGB4. The father and healthy offspring were heterozygous for the same variant. WES of the mother of Family 2 yielded a variant in PLEC1. The father and grandmother, who had a history of two offspring with fatal ACC, were heterozygous for the same variant. PLEC1 and ITGB4 have both been previously been reported in association with ACC. We compare findings in earlier reported individuals with variants in ITGB4 and PLEC1, and provide a short summary of other entities going along with ACC. [ABSTRACT FROM AUTHOR]

Aplasia cutis congenital (ACC) in lower legs is a rare disease with the absence of the skin, which commonly localized, widespread or scarred at birth. The exact pathophysiology remains unclear, and varicella infection may have essential roles in the aetiologies. Wound healing can be accelerated by using Human Dermal Papillae Conditioned Medium (HDPCM) which has multi-lineage potential differentiation and releases many growth factors. This paper reports the possibility of using human dermal papillae conditioned media to speed up the wound healing process. A 4 days old baby boy presented with ulcers on his both knees since birth and had no history of birth trauma. The mother had varicella infection during the 2nd -trimester of pregnancy. From the dermatological examination, we found defects and total skin loss on both knees. The result of the serology test showed the persistence of varicella-zoster virus immunoglobulin in both patient and his mother. The result of histopathological test supported the diagnosis of ACC. The patient was given topical therapy using 0.1 ml of HDPCM and 10 gr of water-based antioxidant gel and showed improvement after ten days of administration. Evaluation of a patient with ACC by the detailed history and examination could determine varicella as the etiology of the disease. Furthermore, work-up should be based on symptoms and clinical findings. The HDPCM contributes to neovascularization and tissue maturation which in turn could reduce inflammation, resulting in a better healing process with less scar and wound contraction, thus hasten the healing process. We conclude that the HDPCM can be used to accelerate the wound healing process in ACC due to varicella infection. [ABSTRACT FROM AUTHOR]

We report a neonate presenting with a large scalp defect with hypoplasia of underlying frontal and parietal bones. It fits into the description of a severe form of aplasia cutis congenital with hypocalvaria. [ABSTRACT FROM AUTHOR]

Aplasia cutis congenita is characterized by the absence of all layers of the skin and occasionally involves the bone and intracranial dura. It is a rare entity. It may be associated with a different set of abnormalities associated with congenital defects and malformations. Treatment for this injury may be conservative or surgical. We report a patient with type IV aplasia cutis associated with hydrocephalus. [ABSTRACT FROM AUTHOR]

Aplasia cutis congenita is a rare anomaly presenting with the absence of skin. No definite etiology is available. The most common site is the scalp. We present an instance with ACC occurring symmetrically in both sides of the body from chest to flank.

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. [ABSTRACT FROM AUTHOR]

Aplasia cutis congenita is a birth defect characterised by absence of skin and, in some cases, the subcutaneous tissues. This is a case report of the initial conservative management of a neonate in a rural hospital who presented with aplasia cutis congenita involving the trunk and the lower limbs. The literature is reviewed and the case discussed. [ABSTRACT FROM AUTHOR]

We describe a newborn with a phenotype consistent with Adams-Oliver syndrome and truncus arteriosus. Although cardiovascular malformations associated with this syndrome have been previously published in the literature, this is the first description of truncus arteriosus in a patient with Adams-Oliver syndrome. We review other reports of Adams-Oliver syndrome previously described with cardiovascular malformations, consider possible genetic and embryologic mechanisms, and emphasize the need for cardiology consultation when a diagnosis of Adams-Oliver syndrome is suspected in the differential diagnosis. © 2013 Wiley Periodicals, Inc. [ABSTRACT FROM AUTHOR]

Aplasia cutis congenita is a rare anomaly presenting with the absence of skin. No definite etiology is available. The most common site is the scalp. We present an instance with ACC occurring symmetrically in both sides of the body from chest to flank. [ABSTRACT FROM AUTHOR]

Introduction Aplasia cutis congenita (ACC) is a rare congenital disorder, which most commonly involves the scalp, and can affect the galea, the pericranium, the bone, and the dura mater. ACC thus is at risk of infection and hemorrhage. There is no consensus over the ideal management and the role for plastic surgery. Materials and Methods We reviewed retrospectively our experience with 29 patients treated between 1976 and 2011. Results The patients were 17 male and 12 female, 25 being referred immediately at birth. The size of the defect ranged from 1 to 192 cm² Thirteen patients had bone aplasia. Initial conservative treatment was decided in five cases; 15 patients underwent excision-sutures with or without local plasty, 8 underwent pedicled scalp flap, and 1 had skin graft followed by further reconstruction by a free flap. Four patients died in neonatal period because of infection or associated ailments. All others patients achieved complete healing. Discussion The mortality rate of ACC remains high and increases with the size of bone defect. We propose a therapeutic strategy based on the size of the skin defect and the nature of underlying exposed structures. Cranioplasty is exceptionally necessary because of good spontaneous bone regeneration within few months or years. Cosmetic appearance can be improved later by skin expansion. Conclusion Aplasia cutis congenita is a rare malformation with sometimes a rapid fatal issue. A precise evaluation of surface and depth of the lesion is essential to decide if and how to operate, in order to provide rapid and efficient coverage. [ABSTRACT FROM AUTHOR]

The article describes a case of a term newborn whose mother showed clinical signs of hyperthyroidism during a pre-conception check with goiter, tachycardia and moderate exophthalmia. The newborn girl showed excellent adaptation at birth without signs of neonatal hyperthyroidism. The article indicates that aplasia cutis congenita (ACC) was reported only after methimazole (MMI) and speculates on a vascular etiology of ACC following maternal antithyroid drug exposure.

Abstract: Aplasia cutis congenita (ACC) belongs to a heterogeneous group of conditions characterized by a congenital absence of skin, usually on the vertex of the scalp. It can occur as an isolated defect or can be associated with a number of other congenital anomalies. Two cases of systemic ACC of a more severe and extensive type were recently reported. Here, we describe the third case of systemic ACC and review the available literature. A female infant was born with an extensive defect of the skin, a skull defect, imperforate hymen, and some other anomalies. She died soon after birth probably due to asphyxia and dehydration. We also compared the pathologic findings of the current case with those of the other two previously reported cases. This case suggests that systemic ACC might be recognized as a new syndrome. A limitation is that there is only 1 case, and it is difficult to gain a deeper understanding of its etiology and diagnostic criteria. [Copyright &y& Elsevier]

Background: Aplasia cutis congenital (ACC) is a congenital absence of skin most commonly affecting the scalp. No definite etiology is available but multiple causes such as intrauterine infection, fetal exposure to cocaine, heroin, alcohol or antithyroid drugs, vascular disruption, genetic causes, syndromes and teratogens have been suggested. Case Presentation: We present an infant with. symmetrical type of aplasia cutis on the trunk and proximal limbs. She was product of triple pregnancy with two fetuses papyraceous at 12th week of gestational age and at birth. She is treated by non surgical management despite remarkable extent of the lesion. Conclusion: ACC of the trunk is less common than of scalp. Lesion often is symmetric and seen after fetus papyraceous in multiple pregnancies. [ABSTRACT FROM AUTHOR]

Aplasia cutis is a congenital disorder of the skin and underlying tissue. The main complications of larger defects include bleeding that may be deadly. There fore the prompt intervention, accurate diagnosis and appropriate treatment are critical for the patient. Controversy about the treatment both surgical and conservative has been always present and with variable results. We present a case of aplasia cutis of fullthickness of the scalp and cranium with hemorrhage of the superior sagittal sinus that was treated conservatively, with satisfactory healing and recovering without neurologic complications, after 18 years follow up evaluation. The importance of sagittal sinus bleeding in these cases is an important criteria for the initial management. [ABSTRACT FROM AUTHOR]

No abstract available [ABSTRACT FROM AUTHOR]

Agenesis of scalp is an uncommon but well-recognized clinical entity. Congenital scalp and skull defects can be either obvious or occult; over 300 cases have been reported in literature. Aplasia cutis congenita (ACC) is recognized as a heterogeneous disorder, all characterized by focal absence of the epidermis, dermis and sometimes the calvarium and/or dura. We present a case of ACC in an infant whose mother was exposed to a teratogenic drug (Methimazole--an antithyroid drug) during pregnancy. This case report is presented to highlight the steps to successful management. Definitive full thickness scalp cover at the earliest avoids secondary infection, eschar formation and exsanguination. [ABSTRACT FROM AUTHOR]

Purpose: To establish whether trichoscopy can be useful in the differential diagnosis of patchy alopecia in children., Procedures: The study was a retrospective analysis (2012-2015) and included 68 patients under 6 years of age. The inclusion criteria were age and the presence of 1-3 alopecia patches. A total of 124 alopecia patches were examined with the use of a videodermoscope: 102 alopecia areata, 8 tinea capitis, 6 trichotillomania, 3 temporal triangular alopecia and 5 aplasia cutis congenita., Results: In all aplasia cutis congenita lesions, trichoscopy revealed elongated hair bulbs visible through the semitranslucent epidermis, seen at the hair-bearing margin and radially arranged. Hair regrowth [upright regrowing hairs (44%), circular hairs (23%) and vellus hairs (20%)] was observed in the majority of alopecia areata patches. For triangular alopecia, upright regrowing hairs (100%; 3/3), vellus hairs (100%; 3/3) and circle hairs (33%; 1/3) were seen inside the alopecia patch., Conclusion: Trichoscopy is a useful technique for the differential diagnosis of patchy alopecia in children. A novel finding in this study indicates that radially arranged hair bulbs visible through the translucent epidermis are characteristic of nonbullous type aplasia cutis congenita.