Scalp Closure in Midline Cutis Aplasia-An Absolute Indication for Preoperative Imaging.

The ideal evaluation and treatment of aplasia cutis congenita remains disputed. We present a case of midline scalp cutis aplasia that healed by secondary intention, leaving an area of residual alopecia. There were no clinical indicators of an underlying calvarial defect. Tissue expansion of the scalp was done in preparation for scalp closure. However, on the removal of the expanders and scalp advancement, an unrecognized midline calvarial defect in which a scar tract of herniated dura was found. This resulted in a dural tear, repaired with minimal hemorrhage. However, manipulation of the sagittal sinus resulted in a right subdural hemorrhage followed by cerebral ischemia and a stroke. On the basis of this clinical scenario, we recommend that all cases of midline scalp cutis aplasia undergo preoperative imaging with thin slices of the calvaria before performing scalp advancement-even if the only clinical indication for surgery is scalp alopecia without a palpable skull defect.

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 This study shows a previously unpublished severe AOS phenotype in a term newborn.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.

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.

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.

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.

Aplasia cutis congenita of the scalp: Histopathologic features and clinicopathologic correlation in a case series.

BACKGROUND: Aplasia cutis congenita (ACC) is a rare and heterogeneous disorder characterized by congenital absence of skin. The scalp is the most commonly affected site and lesions may overlie deeper ectodermal abnormalities. The exact etiology is still unknown, and histopathologic features are poorly defined. METHODS: A series of 10 cases from nine patients was analyzed to characterize the clinicopathologic spectrum and age-related changes of ACC of the scalp. Hematoxylin and eosin, S100, Elastica van Gieson, and Weigert elastic stains were performed, and clinical information was retrieved from archived medical files. RESULTS: Patient ages ranged from 1 day to 39 years (median 57 months). All cases resembled deep-reaching scars with almost complete loss of all adnexal structures. Isolated residual hair follicles were present in 8/10 and sweat glands and ducts in 2/10 cases. The subcutis was thinned or absent. Elastic fibers were always more fragmented than in normal tissue, and the thickness and density increased over time. There was no gain of adnexal structures with increasing age. CONCLUSIONS: ACC represents a congenital scarring alopecia with permanent loss of skin appendages. Histopathologic changes resemble a deep-reaching scar with fragmented elastic fibers and differentiate ACC from all other forms of non-traumatic congenital alopecias.

Aplasia cutis congenita in Korea: Single center experience and literature review.

BACKGROUND: Aplasia cutis congenita (ACC) is a rare congenital malformation characterized by a localized absence of skin. which most commonly affects the scalp. We performed the present study to elucidate the basic clinical data regarding ACC in Korea, including demographics, clinical features, radiological and therapeutic results. METHODS: Fifty-nine patients (70 lesions) with ACC (35 from our department and 24 from a Koreamed database search) were enrolled. We assessed demographics, family and obstetrical histories, clinical features (multiplicity, subtype, size, shape, hair collar sign, location, and Frieden's classification), and radiologic and therapeutic results. RESULTS: The mean age of patients was 2.62 years, with a male-to-female ratio of 1.03. A minority of patients had a family history (three patients), birth trauma (one patient), maternal drug use (two patients), or human immunodeficiency virus infection (one patient) during pregnancy, and fetus papyraceus of placental infarcts (two patients). Six patients (6/59, 10.17%) had multiple lesions. Scarring was the most common manifestation (39/70, 55.71%). The scalp was the most commonly affected site (50 cases, 71.43%). Thirty-nine patients (66.10%) met Frieden's type I classification (scalp ACC without multiple anomalies). Radiological investigations were performed in 30 patients (30/59, 50.85%) with abnormal findings in eight patients. Twenty-five patients (42.37%) were managed conservatively, and 17 patients (28.81%) were treated with local wound care. CONCLUSIONS: This is the first and largest study assessing the basic clinical data of ACC in Korea. The results of the present study could be useful for pediatricians and dermatologists who routinely manage ACC.

Use of an epidermal growth factor-infused foam dressing in a complicated case of Adams-Oliver syndrome.

Adams-Oliver syndrome is a rare disorder with varying degrees of scalp and cranial bone defects as well as limb anomalies, which can range from mild to more pronounced manifestations. In mild cases, closure of these defects can be achieved with a conservative approach. However, surgical closure is recommended in cases where the defect is extensive and includes cranial involvement. Several complicated cases of Adams-Oliver syndrome have been reported, in which flap failures were encountered and other alternatives had to be used to close critical scalp defects. Here, the case of a 4-year-old child with Adams-Oliver syndrome and a complex cranial defect with exposed titanium mesh is described. The patient was successfully treated with epidermal growth factor (EGF) infused foam dressings and subsequent split-thickness skin grafting. The EGF has been highlighted for its essential role in dermal wound repair through the stimulation of the proliferation and migration of keratinocytes, and showed accelerated wound healing when used in partial or full-thickness skin wounds.

Mutations in KCTD1 cause scalp-ear-nipple syndrome.

Scalp-ear-nipple (SEN) syndrome is a rare, autosomal-dominant disorder characterized by cutis aplasia of the scalp; minor anomalies of the external ears, digits, and nails; and malformations of the breast. We used linkage analysis and exome sequencing of a multiplex family affected by SEN syndrome to identify potassium-channel tetramerization-domain-containing 1 (KCTD1) mutations that cause SEN syndrome. Evaluation of a total of ten families affected by SEN syndrome revealed KCTD1 missense mutations in each family tested. All of the mutations occurred in a KCTD1 region encoding a highly conserved bric-a-brac, tram track, and broad complex (BTB) domain that is required for transcriptional repressor activity. KCTD1 inhibits the transactivation of the transcription factor AP-2α (TFAP2A) via its BTB domain, and mutations in TFAP2A cause cutis aplasia in individuals with branchiooculofacial syndrome (BOFS), suggesting a potential overlap in the pathogenesis of SEN syndrome and BOFS. The identification of KCTD1 mutations in SEN syndrome reveals a role for this BTB-domain-containing transcriptional repressor during ectodermal development.

Aplasia Cutis Congenita of the Scalp, Composite Type: The Criticality and Inseparability of Neurosurgical and Plastic Surgical Management.

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.

Delayed Infant Subaponeurotic (Subgaleal) Fluid Collections: A Case Series of 11 Infants.

BACKGROUND: Although subgaleal hemorrhage can present very soon after delivery with catastrophic consequences, subaponeurotic or subgaleal fluid collections are rare and clinically distinct causes of infant scalp swelling that present weeks to months after birth. Their exact etiology remains uncertain; however, they are frequently associated with instrumental and traumatic delivery. AIM & METHODS: To characterize 11 subaponeurotic fluid collections that presented to the Temple Street Children's University Hospital Emergency Department (TSCUHED) from July 2013 to July 2015 by a retrospective chart review. CASE REPORT: Eleven infants were identified with delayed subaponeurotic fluid collections. Of note, all infants were either successful vacuum delivery or failed vacuum delivery with subsequent forceps delivery or emergency caesarean section. All infants were otherwise well at presentation, and resolution of the scalp swelling occurred within weeks to months. WHY SHOULD AN EMERGENCY PHYSICIAN BE AWARE OF THIS?: This condition follows a benign course and conservative management is the treatment of choice.

Successful conservative management of a large congenital scalp and skull defect.

The authors report a case of a female baby born with large congenital scalp and skull defects with exposure of the cranial arachnoid mater. The female patient was delivered by Caesarean section following diagnosis of a large cranial skin defect by ultrasound. The skin defect was present at the time of birth, measured 8.5  cm × 8.0  cm, and involved the full thickness of the cranium. The cranial arachnoid mater was exposed and veins running on the surface of the brain were observed. There was no means to cover the large defect surgically and conservative treatment was initiated. Complete epithelialization of the scalp defect was acquired without fatal problems. In the course of treatment, Mepilex Transfer was very effective. The repair of congenital defects of the scalp and skull is a major challenge not only because of the rarity but also because of severe morbidity. A surgical or conservative approach is chosen according to the situation. This rare case highlights two important clinical issues: that the congenital defects of the scalp and skull could not be managed with a surgical approach and in its place, a conservative approach using the special dressing Mepilex Transfer proved highly effective.

[Development of curly hair under systemic therapy with alitretinoin]. / Haarkräuselung unter Systemtherapie mit Alitretinoin.

BACKGROUND: The retinoid alitretinoin is a therapeutic option for chronic refractory hand eczema. Dryness of skin and mucosa, erythema, pruritus and alopecia are typical cutaneous side effects. CASE REPORT: We report the case of a 44-year-old man whose head hair became curly while taking alitretinoin. Other causes could not be elicited as the patient was otherwise healthy, did not take any other drugs, and denied any specific physical or mental stress. RESULTS: Until now there has been no report about hair curling under alitretinoin. Case reports exist for the retinoids acitretin, isotretinoin and etretinate and for other drugs such as valproat or EGFR tyrosine-kinase inhibitors. The underlying pathogenetic mechanisms are still unclear. With regard to retinoids, an influence on the keratinisation of the inner root sheath has been speculated; however further investigation will be needed to better understand the processes.

Fatal superior sagittal sinus hemorrhage as a complication of aplasia cutis congenita: a case report and literature review.

Aplasia cutis congenita (ACC) is a rare condition that occurs in around 0.01% of births. Characterized by a localized absence of skin, it affects the midline of the scalp in over 80% of cases. We describe the case of an infant born via vaginal spontaneous delivery with ACC affecting the scalp. This extended to the subcutaneous tissue and bone leaving the dura mater exposed. The patient was managed conservatively. At 4 weeks of age, she had a fatal superior sagittal sinus hemorrhage. In a review of the literature, we found ten previous cases of hemorrhage of the superior sagittal sinus complicating an ACC. Including our case, ACC complicated by hemorrhage of the superior sagittal sinus shows a 36% mortality (4/11). An analysis of these cases suggests that this tends to occur between 1 and 3 months of age, though it may occur in younger neonates.

Isolated terminal limb reduction defects: extending the clinical spectrum of Adams-Oliver syndrome and ARHGAP31 mutations.

Adams-Oliver syndrome (AOS; OMIM 100300) typically comprises a combination of congenital scalp defects and terminal transverse limb defects. Recently, mutations in ARHGAP31 and RBPJ have been found causing autosomal dominant forms of AOS. We describe a four-generation pedigree with isolated terminal limb defects and a truncating mutation in ARHGAP31. This finding underscores the relevance of sequencing ARHGAP31 in similar cases of isolated limb defects, irrespective of the presence of a complete AOS phenotype. We also highlight the variability of clinical features among mutation carriers, ranging from severe reduction defects to mild as well as clinically unaffected cases suggesting reduced penetrance.

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.