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Aplasia Cutis Congenita

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1. Aplasia cutis congenita associated with a heterozygous loss-of-function UBA2 variant. (PubMed)

Aplasia cutis congenita associated with a heterozygous loss-of-function UBA2 variant. Aplasia cutis congenita (ACC) is an isolated or syndromic congenital skin defect with the absence of skin and occasionally subcutaneous tissue, commonly seen as localised lesions on the scalp vertex. Syndromic ACC is associated with limb, neurological, cardiovascular, gastrointestinal, genitourinary, placental, and dermatological anomalies.1 Familial reports of ACC suggest a Mendelian inheritance although

2019 British Journal of Dermatology

2. Integra®-Dermal Regeneration Template and Split-Thickness Skin Grafting: A Therapy Approach to Correct Aplasia Cutis Congenita and Epidermolysis Bullosa in Carmi Syndrome (PubMed)

Integra®-Dermal Regeneration Template and Split-Thickness Skin Grafting: A Therapy Approach to Correct Aplasia Cutis Congenita and Epidermolysis Bullosa in Carmi Syndrome The association of junctional epidermolysis bullosa with pyloric atresia (JEB-PA) and aplasia cutis congenita (ACC) was described by El Shafie et al. (J Pediatr Surg 14(4):446-449, 1979) and Carmi et al. (Am J Med Genet 11:319-328, 1982). Most patients die in the first weeks of life, and no curative treatment options

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2018 Dermatology and therapy

3. Aplasia Cutis Congenita: A Case Report (PubMed)

Aplasia Cutis Congenita: A Case Report Aplasia cutis congenita is characterized by congenital focal absence of skin in a newborn.A 45-day-old boy presented to the outpatient clinic of dermatology at King Abdul Aziz Medical City, Jeddah, Saudi Arabia, with a flat scalp lesion on the space of the anterior fontanel. There was a positive family history of such condition in his older brother's scalp, which resolved spontaneously within 3 weeks after labor, without any medical intervention (...) three times daily. After 2 days, the scalp cyst gradually decreased in size and became dry within 1 week. Follow-up after 3 months showed that the scalp lesion completely healed, leaving a very small atrophic scar and no further management of the lesion was needed.Aplasia cutis congenita is a rare condition of uncertain etiology, but consanguinity may play a role. Its management depends on its pattern, location, underlying causes, and associated anomalies.

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2018 Case reports in dermatology

4. Aplasia cutis congenita type V: a case report and review of the literature. (PubMed)

Aplasia cutis congenita type V: a case report and review of the literature. Aplasia cutis congenita (ACC) is a relatively rare congenital anomaly that most commonly occurs as a solitary cutaneous defect on the scalp. Depth of involvement varies, and involvement of deeper calvarium and dural structures can be seen in more severe cases. Multiple classification systems have been devised with the Frieden Classification System being the most widely adopted. Using this system, we describe a patient

2017 International Journal of Dermatology

5. A Case of Aplasia Cutis Congenita Type VI: Bart Syndrome (PubMed)

A Case of Aplasia Cutis Congenita Type VI: Bart Syndrome Aplasia cutis congenita type VI, also known as Bart syndrome, is a rare genetic mechanobullous disorder characterized by congenital localized absence of skin, mucocutaneous blistering lesions, and nail abnormalities. We present the case of a 4-h-old male newborn who presented with complete absence of skin over the anteromedial aspect of both lower legs associated with nail dystrophy since birth. After a few days, he developed blisters

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2017 Case reports in dermatology

6. A Familial Case of Aplasia Cutis Congenita in Two Korean Siblings: A Review of Genetic Aspects (PubMed)

A Familial Case of Aplasia Cutis Congenita in Two Korean Siblings: A Review of Genetic Aspects 28966538 2017 10 02 1013-9087 29 5 2017 Oct Annals of dermatology Ann Dermatol A Familial Case of Aplasia Cutis Congenita in Two Korean Siblings: A Review of Genetic Aspects. 663-665 10.5021/ad.2017.29.5.663 Kim Dong Young DY Department of Dermatology, Seoul National University College of Medicine, Seoul, Korea. Laboratory of Cutaneous Aging and Hair Research, Biomedical Research Institute, Seoul

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2017 Annals of dermatology

7. Aplasia cutis congenita as a result of interstitial laser therapy for fetal reduction in monochorionic twins: Conservative approach and outcome (PubMed)

Aplasia cutis congenita as a result of interstitial laser therapy for fetal reduction in monochorionic twins: Conservative approach and outcome Monochorionic (MC) twin pregnancies are known to carry a high risk of twin-to-twin transfusion syndrome (TTTS) that could lead to miscarriage and perinatal death. Demise of one fetus is frequently associated with co-fetal death. Fetal reduction by interstitial laser therapy is an effective procedure to prevent this outcome, but it may be associated (...) with significant risks for both mother and fetus. Aplasia Cutis Congenita (ACC) may occur in up to 8% cases of fetal reduction by laser therapy. We report ACC in a preterm infant, a survivor of interstitial laser therapy for fetal reduction in MC pregnancy. Despite of massive skin lesions we were able to manage this case conservatively. Follow-up at 5 years of age revealed minimal scarring and no motor function limitations.Copyright © 2017 The Authors. Published by Elsevier Ltd.. All rights reserved.

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2017 International journal of surgery case reports

8. Aplasia cutis congenita: Two case reports and discussion of the literature (PubMed)

Aplasia cutis congenita: Two case reports and discussion of the literature Aplasia cutis congenita (ACC) is a part of a heterogeneous group of conditions characterized by the congenital absence of epidermis, dermis, and in some cases, subcutaneous tissues or bone usually involving the scalp vertex. There is an estimated incidence of 3 in 10,000 births resulting in a total number of 500 reported cases to date. The lesions may occur on every body surface although localized scalp lesions form (...) the most frequent pattern (70%). Complete aplasia involving bone defects occurs in approximately 20% of cases. ACC can occur as an isolated defect or can be associated with a number of other congenital anomalies such as limb anomalies or embryologic malformations. In patients with large scalp and skull defects, there is increased risk of infection and bleeding along with increased mortality and therefore prompt and effective management is advised.We describe two cases of ACC, involving a 4 × 3 cm

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2017 Surgical neurology international

9. Aplasia Cutis Congenita of the Scalp with a Familial Pattern: A Case Report (PubMed)

Aplasia Cutis Congenita of the Scalp with a Familial Pattern: A Case Report Aplasia Cutis Conginita (ACC) is a condition characterized by congenital absence of skin, usually on the scalp. ACC can occur as an isolated condition or in the presence of other congenital anomalies. Here we describe a case of a 16 days old baby girl with an isolated ACC of the scalp. Her elder two siblings have been diagnosed with ACC with concomitant cardiac or limb anomalies. The patient was managed conservatively

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2016 World journal of plastic surgery

10. Aplasia Cutis Congenita

Aplasia Cutis Congenita Aplasia Cutis Congenita Toggle navigation Brain Head & Neck Chest Endocrine Abdomen Musculoskeletal Skin Infectious Disease Hematology & Oncology Cohorts Diagnostics Emergency Findings Procedures Prevention & Management Pharmacy Resuscitation Trauma Emergency Procedures Ultrasound Cardiovascular Emergencies Lung Emergencies Infectious Disease Pediatrics Neurologic Emergencies Skin Exposure Miscellaneous Abuse Cancer Administration 4 Aplasia Cutis Congenita Aplasia Cutis (...) Congenita Aka: Aplasia Cutis Congenita II. Epidemiology : 0.03% of newborns III. Pathophysiology Congenital absence of skin nic defect present in a small subset of patients IV. Signs , ulceration or atrophic lesion V. Distribution Most often at the scalp near the vertex VI. Labs Biopsy shows absent or VII. Management Avoid secondary Surgical excision in some cases Images: Related links to external sites (from Bing) These images are a random sampling from a Bing search on the term "Aplasia Cutis

2018 FP Notebook

11. Frequent Occurrence of Aplasia Cutis Congenita in Bullous Dermolysis of the Newborn. (PubMed)

Frequent Occurrence of Aplasia Cutis Congenita in Bullous Dermolysis of the Newborn. Bullous dermolysis of the newborn (BDN) is a subtype of dystrophic epidermolysis bullosa characterized by rapid improvement in skin fragility within the first months of life, associated with typical immunofluorescence and ultrastructural features. Inheritance can be autosomal dominant or recessive. We report here 4 cases of BDN, 2 of which presented with aplasia cutis congenita of the lower extremities. All (...) to the lower extremities. In conclusion, these findings indicate that aplasia cutis congenita is not an infrequent manifestation of BDN.

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2016 Acta Dermato-Venereologica

12. Failed conservative management of a case of aplasia cutis congenita in a low‐income country (PubMed)

Failed conservative management of a case of aplasia cutis congenita in a low‐income country Aplasia cutis congenita is a rare disease characterized by absence of skin layers. Usually the scalp is affected, but the whole body can be involved. We report extensive aplasia of a baby born of a HIV-positive mother taking antiretroviral drugs. Conservative treatment was not enough to ensure her survival.

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2016 Clinical Case Reports

13. Aplasia Cutis Congenita of the Scalp with a Familial Pattern (PubMed)

Aplasia Cutis Congenita of the Scalp with a Familial Pattern Aplasia Cutis Congenita (ACC) is a condition characterized by congenital absence of skin, usually on the scalp. ACC can occur as an isolated condition or in the presence of other congenital anomalies. Here we describe a case of a 16-day-old baby girl with an isolated ACC of the scalp. Her elder two siblings have been diagnosed with ACC with concomitant cardiac or limb anomalies. The patient was managed conservatively until the defect

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2016 Case reports in surgery

14. Infant bald patch: ultrasonographic diagnosis of aplasia cutis congenita. (PubMed)

Infant bald patch: ultrasonographic diagnosis of aplasia cutis congenita. 27768234 2017 06 16 1468-3083 31 6 2017 Jun Journal of the European Academy of Dermatology and Venereology : JEADV J Eur Acad Dermatol Venereol Infant bald patch: ultrasonographic diagnosis of aplasia cutis congenita. e276-e277 10.1111/jdv.14018 Hioki T T Department of Dermatology, Gifu Prefectural Tajimi Hospital, Gifu, Japan. Takama H H Department of Dermatology, Aichi Medical University, Aichi, Japan. Department

2016 Journal of the European Academy of Dermatology and Venereology

15. Trichoscopy of Focal Alopecia in Children - New Trichoscopic Findings: Hair Bulbs Arranged Radially along Hair-Bearing Margins in Aplasia Cutis Congenita (PubMed)

Trichoscopy of Focal Alopecia in Children - New Trichoscopic Findings: Hair Bulbs Arranged Radially along Hair-Bearing Margins in Aplasia Cutis Congenita To establish whether trichoscopy can be useful in the differential diagnosis of patchy alopecia in children.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.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

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2016 Skin appendage disorders

16. Dermoscopic Findings of Scalp Aplasia Cutis Congenita (PubMed)

Dermoscopic Findings of Scalp Aplasia Cutis Congenita Aplasia cutis congenita (ACC) is a rare disease characterized by congenital absence of skin, affecting preferentially the scalp. Diagnosis is made clinically; however, recent studies have shown that dermoscopy can be a useful tool for the diagnosis and differentiation from sebaceous nevus. The clinical findings include a shiny atrophic alopecic patch associated with dermoscopic findings of absent follicular openings, thicker vessels

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2016 Skin appendage disorders

17. Aplasia cutis congenita: report of 22 cases. (PubMed)

Aplasia cutis congenita: report of 22 cases. Aplasia cutis congenita (ACC) is a rare malformation characterized by absent or scarred areas of skin at birth. Although most commonly found on the scalp, ACC can also involve other locations. Its etiology and pathogenesis remain unclear.To describe the epidemiologic, clinical, therapeutic, and evolutionary aspects of ACC through a hospital series.We conducted a retrospective study from 1995 to 2012 and reported all cases of ACC.We enrolled 22 cases

2015 International Journal of Dermatology

18. Large defects in aplasia cutis congenita treated by large-sized thin split-thickness skin grafting: long-term follow-up of 18 patients. (PubMed)

Large defects in aplasia cutis congenita treated by large-sized thin split-thickness skin grafting: long-term follow-up of 18 patients. To evaluate the long-term results of using surgical large-sized thin split-thickness skin grafting to treat aplasia cutis congenita (ACC) in neonates.This study included 18 ACC neonates with large skin defects who underwent large-sized thin split-thickness skin grafting at our hospital from March 2002 to November 2011. The size of the lesion was >10

2015 International Journal of Dermatology

19. Aplasia cutis congenita: clinical management and a new classification system. (PubMed)

Aplasia cutis congenita: clinical management and a new classification system. Aplasia cutis congenita is a rare, congenital disorder. In its severe phenotype, it is potentially life threatening. Its management and the timing of surgery remain controversial because of the risks involved with both conservative and surgical approaches. Most literature is based on case reports and very small case series because of the rarity of the disorder. The authors present their experience treating newborns (...) with aplasia cutis congenita and its progressive development.Using a hospital registry, the authors found all cases of newborns diagnosed with aplasia cutis congenita during the years 2000 to 2013. Clinical data were gathered from hospital and clinic records, and photographs were obtained by the plastic surgery team.Twenty-two cases of aplasia cutis congenita were included in this study: 21 on the scalp and one on the foot heel. Eleven patients were male and 11 were female. Defect size ranged from 1 to 150

2014 Plastic and reconstructive surgery

20. Aplasia Cutis Congenita (Follow-up)

Aplasia Cutis Congenita (Follow-up) Aplasia Cutis Congenita Treatment & Management: Medical Care, Surgical Care, Consultations Edition: No Results No Results Please confirm that you would like to log out of Medscape. If you log out, you will be required to enter your username and password the next time you visit. https://profreg.medscape.com/px/getpracticeprofile.do?method=getProfessionalProfile&urlCache=aHR0cHM6Ly9lbWVkaWNpbmUubWVkc2NhcGUuY29tL2FydGljbGUvMTExMDEzNC10cmVhdG1lbnQ= processing (...) > Aplasia Cutis Congenita Treatment & Management Updated: Jul 31, 2018 Author: Joy Wan, MD, MSCE; Chief Editor: William D James, MD Share Email Print Feedback Close Sections Sections Aplasia Cutis Congenita Treatment Medical Care The decision to use medical, surgical, or both forms of therapy in aplasia cutis congenita (ACC) depends primarily on the size, depth, and location of the cutaneous defect and any therapy indicated for associated defects. [ , , , , , , , , , , ] Local therapy includes gentle

2014 eMedicine.com

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