This case series highlights phenotypic variability in SEN syndrome, including a novel co-occurrence with Klinefelter syndrome, including a novel co-occurrence with Klinefelter syndrome.
Abstract
Scalp-Ear-Nipple syndrome (SEN), or Finlay-Marks syndrome, is an exceedingly rare congenital disorder characterized by scalp aplasia, auricular malformations, and nipple hypoplasia or absence. Fewer than 100 cases have been described, and phenotypic variability complicates diagnosis and management.
Two male neonates presented with large aplasia cutis congenita (ACC) defects and variable phenotypic features. The first patient, born at 37 weeks, exhibited the classic triad of occipital ACC, bilateral cupped ears, and athelia, along with PDA and left upper eyelid coloboma. Genetic testing identified a pathogenic KCTD1 mutation and a 47, XXY karyotype consistent with Klinefelter syndrome. The second patient, born at term, had an isolated midline scalp defect with distal limb anomalies including hallux hypoplasia and nail dysplasia. Genetic testing for Adams-Oliver syndrome and SEN-associated genes was negative. Both patients underwent staged reconstructive strategies using biologic allografts and Integra Dermal Regeneration Template to promote epithelialization and soft tissue coverage. Reconstruction was coordinated through a multidisciplinary craniofacial team. Patients showed progressive epithelialization and calvarial regeneration with normal neurodevelopment, and stable wound healing with age-appropriate neurologic development throughout follow-up.
This case series highlights phenotypic variability in SEN syndrome, including a novel co-occurrence with Klinefelter syndrome. Early recognition, genetic evaluation, and staged reconstruction are essential to optimize outcomes in patients with syndromic ACC.
Williams syndrome is a rare multisystem genetic disorder caused by a microdeletion at chromosome 7q11.23 involving the ELN gene. It is characterized by distinctive facial features, cardiovascular abnormalities, developmental delay, endocrine disturbances, and a characteristic hypersocial behavioral profile. We report a 7-year-old girl with genetically confirmed Williams syndrome who presented with urinary tract infection. She had been diagnosed at 1 year of age after recognition of dysmorphic features and congenital cardiac disease, followed by confirmation by chromosome analysis and fluorescence in situ hybridization. Clinical findings included depressed nasal bridge, posteriorly rotated ears, long philtrum, retrognathia, mild pectus deformity, deep-set nails, and mild muscular ventricular septal defect. At follow-up, she had typical “elfin” facies and an unusually friendly personality. This case highlights the importance of early recognition and long-term multidisciplinary follow-up, including cardiovascular, developmental, behavioral, metabolic, renal, hearing, and visual surveillance.
Nooreen, Nagamani Kulkarni, Shivakumar Indi et al.· International Journal of Con...· 0 citations
Background/Objectives: Branchio-oto syndrome (BOS) is an autosomal dominant disorder primarily associated with pathogenic variants in EYA1, mainly characterized by branchial anomalies, auricular abnormalities, and hearing loss. However, the co-occurrence of inner ear malformations in BOS remains understudied, especially severe malformations. This study aimed to investigate the clinical and genetic characteristics of patients with EYA1-associated BOS, with emphasis on cochlear nerve deficiency (CND). Methods: From January 2020 to April 2026, patients diagnosed with EYA1-associated BOS at an otology outpatient clinic in a tertiary hospital were included. Clinical manifestations, audiological assessments, imaging and genetic findings were analyzed. Results: Thirteen patients (six females and seven males) from eight unrelated families aged 0.3–58.3 years were enrolled. Branchial cleft fistulas and preauricular pits were each observed in 76.9% (10/13) of patients. The mean pure-tone average was 74.3 ± 20.7 dB HL. Eight EYA1 variants (four truncating, two large deletions, and two splicing) were identified. Among these, five were novel (c.320_329del, c.518del, c.1307dupT, c.1475+1G>A, and exon 12–18 deletion). CND was detected in 38.5% (5/13) of patients and 26.9% (7/26) of ears. Patients with CND carried either truncating variants (n = 3) or large deletions (n = 2) of EYA1. No CND was observed in patients with splicing variants. Conclusions: This study identifies five novel EYA1 pathogenic variants and suggests that CND may be a relatively common radiologic feature in EYA1-associated BOS, particularly among patients with truncating variants or large deletions, although larger studies are needed to confirm this association.
Background: Poland syndrome is a rare congenital anomaly characterized by unilateral absence or hypoplasia of the pectoralis major muscle, often associated with ipsilateral thoracic and upper-limb abnormalities. Its etiology remains uncertain, with the most widely accepted hypothesis involving disruption of the subclavian artery supply during embryogenesis. Clinical presentation varies widely, ranging from isolated muscular defects to complex thoracic deformities.
Case Presentation: This report describes an 8-month-old male who presented with anterior chest wall asymmetry. Examination revealed unilateral hypoplasia of the left breast, absence of the anterior axillary fold, and hypoplasia of the pectoralis major and minor muscles.
Discussion: Poland syndrome is typically diagnosed on clinical grounds, with imaging serving to delineate the extent of musculoskeletal involvement and exclude associated anomalies. Management is individualized and depends on the severity of deformity, patient age, and functional or psychological impact. Reconstructive options include autologous tissue transfer, prosthetic implantation, or a combination of both. Early diagnosis and appropriate counseling are essential to optimize long-term outcomes.
Conclusion: Poland syndrome is a very rare congenital anomaly with few reports in the international literature. In adults, it needs breast reconstruction to address the asymmetry of the chest.
Edvin Selmani, V. Ruci, L. Fezollari et al.· Albanian Journal of Trauma a...· 0 citations
Background Aplasia cutis congenita (ACC) is a rare congenital disorder characterized by localized absence of skin, most frequently involving the scalp. In severe cases, the defect may extend to the skull and dura mater, exposing intracranial structures and increasing the risk of infection, hemorrhage, and venous sinus injury. Although early surgical reconstruction with duraplasty and scalp flap coverage is often successful, delayed complications such as cystic hydrocephalus may develop months after surgery. Extensive ACC with both cranial and dural defects remains exceedingly rare, and optimal management strategies are not well established. Case Presentation We report a full‐term female newborn with a large midline parietal scalp defect measuring 7 cm × 6 cm, associated with absence of the underlying calvarium and dural aplasia. The lesion was covered by a thin membranous tissue with visible brain pulsation and exposure of the superior sagittal sinus (SSS). Initial management included sterile dressings and broad‐spectrum antibiotics. On day 8 of life, surgical reconstruction was performed using synthetic duraplasty followed by rotational scalp flap closure. Postoperative recovery was uneventful, and the wound healed satisfactorily. At 6 months postoperatively, the patient developed cystic hydrocephalus, which was managed with ventriculoperitoneal shunt placement. At 24‐month follow‐up, the patient achieved normal developmental milestones with a good cosmetic outcome. Conclusion Extensive ACC involving the skull and dura mater represents a severe and potentially life‐threatening variant of the disease. Early multidisciplinary management with synthetic duraplasty and scalp flap reconstruction can provide effective protection of intracranial structures and yield favorable long‐term outcomes. Nevertheless, long‐term follow‐up is essential, as delayed complications such as cystic hydrocephalus may arise months after initial surgical repair.
A. B. Sutiono, B. Riestiano, Yulius Hermanto et al.· Case Reports in Surgery· 0 citations
Introduction
Yellow nail syndrome (YNS) is a rare disorder characterized by the triad of yellow nail discoloration, lymphedema, and respiratory manifestations. Pediatric cases are uncommon and often present incompletely, making diagnosis challenging. Although generally considered acquired, rare familial cases suggest possible genetic susceptibility.
Case Presentation
An 8-year-old girl presented with diffuse yellow nail dystrophy involving all 20 nails and recurrent unilateral swelling of the left lower extremity. Examination revealed yellow discoloration, dystrophy, and cuticle loss affecting all nails. Extensive multidisciplinary evaluation showed no systemic or respiratory involvement. Nail histopathology demonstrated dense bacterial aggregates resembling biofilm beneath the nail plate, while fungal studies were negative. Genetic analysis identified a heterozygous variant of uncertain significance in the FZD6 gene, associated with nail morphogenesis, whereas FOXC2 mutation analysis was negative. Conservative treatment with lymphedema exercises, compression bandaging, and topical therapy resulted in clinical improvement.
Conclusion
This case highlights the diagnostic difficulty of pediatric YNS in the absence of the complete classical triad. YNS should remain in the differential diagnosis of children with unexplained nail dystrophy and recurrent extremity edema, even when systemic and genetic evaluations are inconclusive.
E. Kasapoğlu, T. Uzunçakmak, Ayse Mine Onenerk Men et al.· Skin Appendage Disorders· 0 citations
