Aplasia cutis congenita type VII of the lower extremity: a favourable disease course with minimal conservative treatment.

Aplasia cutis congenita (ACC) is a group of rare heterogeneous disorders characterised by absent areas of skin at birth. The majority of cases involve the scalp region. ACC limited to one lower limb is extremely rare. We report an usual case of ACC limited to the left thigh of which healing occurred in utero. The case was managed conservatively and the disease course has been favourable with no limitations in limb function and an entirely normal development. Most cases of ACC are self-healing, justifying a conservative approach. This holds further true for ACC limited to one lower limb where the majority of cases reported to date show a favourable disease course with minimal conservative treatment.

KCTD1/KCTD15 complexes control ectodermal and neural crest cell functions, and their impairment causes aplasia cutis.

Aplasia cutis congenita (ACC) is a congenital epidermal defect of the midline scalp and has been proposed to be due to a primary keratinocyte abnormality. Why it forms mainly at this anatomic site has remained a long-standing enigma. KCTD1 mutations cause ACC, ectodermal abnormalities, and kidney fibrosis, whereas KCTD15 mutations cause ACC and cardiac outflow tract abnormalities. Here, we found that KCTD1 and KCTD15 can form multimeric complexes and can compensate for each other's loss and that disease mutations are dominant negative, resulting in lack of KCTD1/KCTD15 function. We demonstrated that KCTD15 is critical for cardiac outflow tract development, whereas KCTD1 regulates distal nephron function. Combined inactivation of KCTD1/KCTD15 in keratinocytes resulted in abnormal skin appendages but not in ACC. Instead, KCTD1/KCTD15 inactivation in neural crest cells resulted in ACC linked to midline skull defects, demonstrating that ACC is not caused by a primary defect in keratinocytes but is a secondary consequence of impaired cranial neural crest cells, giving rise to midline cranial suture cells that express keratinocyte-promoting growth factors. Our findings explain the clinical observations in patients with KCTD1 versus KCTD15 mutations, establish KCTD1/KCTD15 complexes as critical regulators of ectodermal and neural crest cell functions, and define ACC as a neurocristopathy.

Aplasia Cutis Congenita of the Scalp with Bone Defect and Exposed Sagittal Sinus in Trisomy 13 Newborn - a Case Report.

Background: Aplasia cutis congenita is a heterogeneous disorders group with a rare reported incident of 0.5 to 1 in 10,000 births. ACC can be associated with physical defects or syndrome that may help in diagnosis, prognosis and further evaluation of the patient. Trisomy 13 is one of the most common fetal life limiting diagnosis which is associated with ACC of membranous type scalp. Objective: In this article, we report cases of aplasia cutis congenita of the scalp with dura and bone defect and exposed sagittal sinus in newborn diagnosed to have trisomy 13. It emphasizes the importance of ACC associated syndrome which is having high mortality prior to surgical intervention. Case presentation: The patient was born at 35 weeks of gestation. Her physical examination revealed a newborn girl with dysmorphic facial features including widely separated eyes, downward slanting of the palpebral fissure, microphthalmia, retrognathia, and low seat ears. She had area of loss of scalp skin and skull bone with seen brain tissue and sagittal sinus were exposed that was measure 6 by 5 cm in size. Additionally, she had a clenched fist and overlapping fingers and rocker bottom feet. Laboratory investigations include basic labs and the TORCH screen was negative. On the 9th day of life, a chromosomal analysis showed a female karyotype with three copies of chromosome number 13 in all 20 metaphase cells counts. Conclusion: The patient was managed conservatively. However, a multidisciplinary team agreed on do not resuscitate with no further surgical intervention as survival rate of trisomy 13 is poor.

Medusa's Wrath: Bleeding Giant Scalp Arteriovenous Malformation in an Adult: A Case Report.

BACKGROUND: Scalp arteriovenous malformation (AVM) is a rare congenital disease that may present with massive bleeding. To date, surgical excision remains the definitive management. However, the procedure could lead to intraoperative bleeding due to the tumor's high blood flow and complex vascularity. CASE REPORT: A 49-year old Filipino male presented with a bleeding giant scalp AVM. Computed tomographic scan and duplex studies showed multiple feeding vessels with turbulent flow arising primarily from the right superficial temporal, right posterior auricular, and occipital vessels. Prior to surgery, the patient underwent transfusion due to preoperative hemoglobin of 6 g/dL. Proximal control of the right external carotid artery was performed through a supine position and left in place to reduce the majority of blood flow to the AVM. The patient was turned to a prone position for surgical planning to achieve maximal skin-sparing dissection prior to excision. First, ligation of bilateral superficial temporal and posterior auricular arteries was performed. Next, excision above the periosteum with segmental ligation of feeding vessels around the AVM was carried out. Reconstruction of the defect was done via scalp advancement flap and split-thickness skin grafting. Intraoperative blood loss was 1.6 L. On the sixth postoperative day, the patient was discharged with 100% graft take. CONCLUSION: Management of scalp AV malformation is challenging, and despite measures to decrease intraoperative bleeding, blood loss is still high. While preoperative embolization has been reported to decrease the risk of bleeding, this procedure is not currently available in our setting. Our case highlights the complexity of giant scalp AV malformation management in a limited-resource setting. Even in the absence of endovascular intervention, outright surgical excision of AVM can be performed, albeit with higher levels of blood loss.

Severe Adams-Oliver Syndrome after Maternal COVID-19 Infection Could Be Another Effect of the SARS-CoV-2 Inflammatory Storm? Case Report.

Background. Adams-Oliver syndrome is a congenital disease whose main findings are aplasia cutis congenita of the scalp and terminal transverse limb defects. The pathogenesis is unknown, but it is postulated that ischemic events in susceptible tissues cause the lesions in the embryonic period.Case report. We present a newborn with a severe phenotype of Adams-Oliver syndrome. The infant's mother had a SARS-CoV-2 infection in the first trimester of pregnancy. Prenatal ultrasound indicates a probable worsening of the disease after the first trimester.Conclusion. This study shows a previously unpublished severe AOS phenotype in a term newborn. There are some signs that the disease could have progressed beyond the first trimester, either spontaneously or by the inflammatory mechanisms of SARS-CoV-2.

Scalp arteriovenous malformations - 20 years of experience in a tertiary healthcare centre.

BACKGROUND: Scalp arteriovenous malformations (SAVM) are extremely uncommon vascular malformations, with only ~200 cases published in the English language in the past years. The objective of the present study was to describe the experience of a single reference service in neurosurgery. METHODS: This is a descriptive and retrospective study conducted at our institution, which included cases of SAVM treated between 2001 and 2022. All information were extracted from the medical records of our institution. Patient confidentiality was preserved. Furthermore, an illustrative case has been described in detail. RESULTS: Seven patients were included. The male-to-female ratio was 2.5: 1 and the mean age was 23.3 (3-42) years. Most cases (56.4%) were spontaneous and the lesions were located in the frontal (28.7%) and parietal (28.7%) regions. All lesions were supplied by more than one feeder, with the superficial temporal and occipital arteries being the most commonly involved (71.5%). Six patients underwent preoperative embolization, and 56.4% patients had scalp necrosis. Five patients underwent surgical resection, all without recurrence and with good postoperative evolution. CONCLUSIONS: More than one artery was involved in all cases, and the properties of the involved vessel influences the approach strategy. Surgical treatment is curative, and preoperative embolization helps reduce bleeding during the surgery. Complete resection of the lesions prevents associated complications, such as bleeding or recurrence. Scalp necrosis is a frequent complication in the treatment of these lesions, and a multidisciplinary approach involving reconstructive plastic surgery should always be considered.

Aplasia cutis congénita: a propósito de un caso / Aplasia cutis congenita: case report / Aplasia congênita da cútis: relato do caso

La aplasia cutis congénita es una patología rara caracterizada por la ausencia de desarrollo de piel. Aunque puede localizarse en diferentes áreas del cuerpo, mayormente afecta el cuero cabelludo y puede extenderse a tejidos subyacentes. Presentamos aquí un caso clínico que se destaca por la extensión de la lesión. Se incluye la descripción del tratamiento y seguimiento del paciente.

Aplasia Cutis Congenita is a rare pathology characterized by the absence of development of the epidermis, and even though it can compromise any area of the body, it usually affects the scalp and it can be extended to the underlying tissues. We present a particular case due to the lesion size. It includes treatment description and follow-up.

A Aplasia Congênita da Cútis é uma patologia rara caracterizada pela ausência de desenvolvimento das epidermes, e embora possa se localizar em diferentes áreas do corpo, acomete principalmente o couro cabeludo e pode se espalhar para os tecidos subjacentes. Apresentamos aqui um caso clínico que se destaca pela extensão da lesão. Incluímos a descrição do tratamento e acompanhamento do paciente.

FOSL2 truncating variants in the last exon cause a neurodevelopmental disorder with scalp and enamel defects.

PURPOSE: We aimed to investigate the molecular basis of a novel recognizable neurodevelopmental syndrome with scalp and enamel anomalies caused by truncating variants in the last exon of the gene FOSL2, encoding a subunit of the AP-1 complex. METHODS: Exome sequencing was used to identify genetic variants in all cases, recruited through Matchmaker exchange. Gene expression in blood was analyzed using reverse transcription polymerase chain reaction. In vitro coimmunoprecipitation and proteasome inhibition assays in transfected HEK293 cells were performed to explore protein and AP-1 complex stability. RESULTS: We identified 11 individuals from 10 families with mostly de novo truncating FOSL2 variants sharing a strikingly similar phenotype characterized by prenatal growth retardation, localized cutis scalp aplasia with or without skull defects, neurodevelopmental delay with autism spectrum disorder, enamel hypoplasia, and congenital cataracts. Mutant FOSL2 messenger RNAs escaped nonsense-mediated messenger RNA decay. Truncated FOSL2 interacts with c-JUN, thus mutated AP-1 complexes could be formed. CONCLUSION: Truncating variants in the last exon of FOSL2 associate a distinct clinical phenotype by altering the regulatory degradation of the AP-1 complex. These findings reveal a new role for FOSL2 in human pathology.

Cutis verticis gyrata and Noonan syndrome: report of two cases with pathogenetic variant in SOS1 gene.

BACKGROUND: Noonan and Noonan-like syndromes are multisystem genetic disorders, mainly with autosomal dominant trasmission, caused by mutations in several genes. Missense pathogenetic variants of SOS1 gene are the second most common cause of Noonan syndrome (NS) and account approximately for 13% to 17% of cases. Subjects carrying a pathogenetic variant in SOS1 gene tend to exhibit a distinctive phenotype that is characterized by ectodermal abnormalities. Cutis verticis gyrata (CVG) is a rare disease, congenital or acquired, characterized by the redundancy of skin on scalp, forming thick skin folds and grooves of similar aspect to cerebral cortex gyri. Several references in the literature have reported association between nonessential primary form of CVG and NS. CASE PRESENTATION: we report two cases of newborns with CVG and phenotype suggestive for NS who have been diagnosed to harbour the same pathogenetic variant in SOS1 gene. CONCLUSIONS: previously described patients with NS presenting CVG had received only clinical diagnosis. Therefore we report the first patients with CVG in which the clinical suspicion of NS is confirmed by molecolar analysis.

Case Report: Anesthesia for a Neonate With Cutis Aplasia.

Cutis aplasia is a rare condition characterized by skin and subcutaneous tissue defects. Researchers have previously described both conservative and surgical management methods. We report herein the case of a neonate with extensive cutis aplasia involving 37% of the total body surface area. Due to the risk of meningitis and catastrophic hemorrhage associated with scalp defects, she underwent staged surgical procedures with skin harvesting and synthetic skin application, followed by the application of cultured epithelial autografts. This report highlights the challenges in temperature and fluid management as well as intraoperative positioning in a neonate with cutis aplasia.

Malformación arteriovenosa epicraneal compleja (aneurisma cirsoideo): presentación de un caso y revisión de la literatura / Complex epicranial arteriovenous malformation (cirrhoid aneurysm). Case report and literature review

Las malformaciones arteriovenosas extracraneales son raras lesiones vasculares que consisten en comunicaciones fistulosas anormales, asociadas a venas de drenajes dilatadas, que crecen a través del tiempo, con tendencia a hemorragias masivas y lesiones de la piel. Se presenta el caso de un paciente masculino de 19 años de edad con diagnóstico de malformación arteriovenosa extracraneal consistente en un aneurisma cirsoideo de gran tamaño y alto flujo que afectaba cuero cabelludo, cara y cuello. El mismo fue seguido por el servicio de Neurocirugía del Hospital Carlos Manuel de Céspedes de Bayamo desde el año 2015, evidenciándose crecimiento progresivo de la misma y aumento de tamaño, ocasionando ulceración de la piel suprayacente y hemorragias de gran magnitud por lo que en un primer momento y como medida emergente para salvar la vida se le realizó ligadura de la arteria carótida común izquierda, luego de esto se comprobó disminución de las dimensiones y el flujo intranidal, no obstante persistieron las hemorragias, programándose entonces la excéresis total macroscópica de la lesión, proceder que fue exitoso. Seguidamente, fue sometido a tratamiento reconstructivo por parte de Caumatología con injerto autólogo de piel del muslo sin complicaciones. Actualmente a dos años de estos tratamientos no se evidencian recurrencias(AU)

Extracranial arteriovenous malformations are rare vascular lesions consisting of abnormal fistulous communications, associated with dilated drainage veins, which grow over time, with a tendency to massive bleeding and skin lesions. We present the case of a 19-year-old male patient diagnosed with an extracranial arteriovenous malformation consisting of a large, high-flow cirsoidal aneurysm that affected the scalp, face, and neck. The same was followed by the Neurosurgery service of the Carlos Manuel de Céspedes Hospital in Bayamo since 2015, showing progressive growth of the same and increase in size, causing ulceration of the overlying skin and hemorrhages of great magnitude so that in Initially, as an emergency measure to save life, ligation of the left common carotid artery was performed. After this, a decrease in dimensions and intranidal flow was verified. However, the hemorrhages persisted. Total macroscopic excision of the artery was scheduled injury, proceed that was successful. Subsequently, he underwent reconstructive treatment by Caumatology with an autologous thigh skin graft without complications. Currently, two years after these treatments, there are no evidence of recurrences(EU)

Scalp-Ear-Nipple syndrome: first report of a Potassium channel tetramerization domain-containing 1 in-frame insertion and review of the literature.

OBJECTIVES: Pathogenic missense variants in the potassium channel tetramerization domain-containing 1 (KCTD1) gene are associated with autosomal dominant Scalp-Ear-Nipple syndrome (SENS), a type of ectodermal dysplasia characterized by aplasia cutis congenita of the scalp, hairless posterior scalp nodules, absent or rudimentary nipples, breast aplasia and external ear anomalies. We report a child with clinical features of an ectodermal dysplasia, including sparse hair, dysmorphic facial features, absent nipples, 2-3 toe syndactyly, mild atopic dermatitis and small cupped ears with overfolded helices. We also review the published cases of SENS with molecularly confirmed KCTD1 variants. METHODS AND RESULTS: Using whole-exome sequencing, we identified a novel, de novo in-frame insertion in the broad-complex, tramtrack and bric-a-brac (BTB) domain of the KCTD1 gene. By comparing to the previously reported patients, we found that our patient's clinical features and molecular variant are consistent with a diagnosis of SENS. CONCLUSIONS: This is only the 13th KCTD1 variant described and the first report of an in-frame insertion causing clinical features, expanding the mutational spectrum of KCTD1 and SENS.

Signo del collar de pelo en cuero cabelludo / The hair collar sign on the scalp

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Reconstruction of a secondary scalp defect using the crane principle and a split-thickness skin graft.

BACKGROUND: Scalp reconstruction is a common challenge for surgeons, and there are many different treatment choices. The "crane principle" is a technique that temporarily transfers a scalp flap to the defect to deposit subcutaneous tissue. The flap is then returned to its original location, leaving behind a layer of soft tissue that is used to nourish a skin graft. Decades ago, it was commonly used for forehead scalp defects, but this useful technique has been seldom reported on in recent years due to the improvement of microsurgical techniques. Previous reports mainly used the crane principle for the primary defects, and here we present a case with its coincidental application to deal with a complication of a secondary defect. CASE REPORT: We present a case of a 75-year-old female patient with a temporoparietal scalp squamous cell carcinoma (SCC). After tumor excision, the primary defect was reconstructed using a transposition flap and the donor site was covered by a split-thickness skin graft (STSG). Postoperatively, the occipital skin graft was partially lost resulting in skull bone exposure. For this secondary defect, we applied the crane principle to the previously rotated flap as a salvage procedure and skin grafting to the original tumor location covered by a viable galea fascia in 1.5 months. Both the flap and skin graft healed uneventfully. CONCLUSIONS: Currently, the crane principle is a little-used technique because of the familiarity of microsurgery. Nevertheless, the concept is still useful in selected cases, especially for the management of previous flap complications.

CSF disturbances and other neurosurgical complications after interdisciplinary reconstructions of large combined scalp and skull deficiencies.

Combined scalp and skull deficiency due to malignant scalp tumors or sequelae of intracranial surgery present challenging entities for both neurosurgeons and reconstructive treatment. In complex cases, an interdisciplinary approach is needed between neurosurgeons and cranio-maxillofacial surgeons. We present a considerably large series for which we identify typical complications and pitfalls and provide evidence for the importance of an interdisciplinary algorithm for chronic wound healing complications and malignomas of the scalp and skull. We retrospectively reviewed all patients treated by the department of neurosurgery and cranio-maxillofacial surgery at our hospital for complex scalp deficiencies and malignant scalp tumors affecting the skull between 2006 and 2019, and extracted data on demographics, surgical technique, and perioperative complications. Thirty-seven patients were treated. Most cases were operated simultaneously (n: 32) and 6 cases in a staged procedure. Nineteen patients obtained a free flap for scalp reconstruction, 15 were treated with local axial flaps, and 3 patients underwent full thickness skin graft treatment. Complications occurred in 62% of cases, mostly related to cerebrospinal fluid (CSF) circulation disorders. New cerebrospinal fluid (CSF) disturbances occurred in 8 patients undergoing free flaps and shunt dysfunction occurred in 5 patients undergoing local axial flaps. Four patients died shortly after the surgical procedure (perioperative mortality 10.8%). Combined scalp and skull deficiency present a challenging task. An interdisciplinary treatment helps to prevent severe and specialty-specific complications, such as hydrocephalus. We therefore recommend a close neurological observation after reconstructive treatment with focus on symptoms of CSF disturbances.

KCTD1 mutants in scalp­ear­nipple syndrome and AP­2α P59A in Char syndrome reciprocally abrogate their interactions, but can regulate Wnt/ß­catenin signaling.

Potassium­channel tetramerization-domain-containing 1 (KCTD1) mutations are reported to result in scalp­ear­nipple syndrome. These mutations occur in the conserved broad­complex, tramtrack and bric a brac domain, which is associated with inhibited transcriptional activity. However, the mechanisms of KCTD1 mutants have not previously been elucidated; thus, the present study aimed to investigate whether KCTD1 mutants affect their interaction with transcription factor AP­2α and their regulation of the Wnt pathway. Results from the present study demonstrated that none of the ten KCTD1 mutants had an inhibitory effect on the transcriptional activity of AP­2α. Co­immunoprecipitation assays demonstrated that certain mutants exhibited changeable localization compared with the nuclear localization of wild­type KCTD1, but no KCTD1 mutant interacted with AP­2α. Almost all KCTD1 mutants, except KCTD1 A30E and H33Q, exhibited differential inhibitory effects on regulating TOPFLASH luciferase reporter activity. In addition, the interaction region of KCTD1 to the PY motif (amino acids 59­62) in AP­2α was identified. KCTD1 exhibited no suppressive effects on the transcriptional activity of the AP­2α P59A mutant, resulting in Char syndrome, a genetic disorder characterized by a distinctive facial appearance, heart defect and hand abnormalities, by altered protein cellular localization that abolished protein interactions. However, the P59A, P60A, P61R and 4A AP­2α mutants inhibited TOPFLASH reporter activity. Moreover, AP­2α and KCTD1 inhibited ß­catenin expression levels and SW480 cell viability. The present study thus identified a putative mechanism of disease­related KCTD1 mutants and AP­2α mutants by disrupting their interaction with the wildtype proteins AP­2α and KCTD1 and influencing the regulation of the Wnt/ß­catenin pathway.