Posterior Distraction First or Fronto-Orbital Advancement First for Severe Syndromic Craniosynostosis.

PURPOSE: Posterior calvarial vault expansion using distraction osteogenesis is performed for syndromic craniosynostosis as the first choice. This procedure allows far greater intracranial volume than fronto-orbital advancement (FOA). This study aimed to determine the most suitable timing of posterior distraction or FOA to sufficiently increase the intracranial volume and remodel the skull shape. PATIENTS AND METHODS: From 2014 to 2017, the authors performed posterior distraction in 13 patients with syndromic craniosynostosis. Data on premature suture fusion, age at first visit, age at surgery, skull thickness, and complications were collected. RESULTS: Five patients underwent posterior distraction at approximately 12 months of age and had no complications, including cerebrospinal fluid leakage or gull wing deformity. However, during the waiting period for the operation, the skull deformity continues to extend upward (turribrachycephaly). To prevent progress of the skull deformity, the authors performed the operation at approximately 6 months of age in 7 patients. However, in 3 of 7 patients whose lambdoid sutures were opening, gull wing deformity occurred. From these results, in a patient with severe Beare-Stevenson syndrome, the authors performed FOA first at 5 months of age, followed by posterior distraction at 12 months of age, and achieved favorable results. CONCLUSIONS: Treatment patterns are patient specific and should be tailored to premature suture fusion, specific skull deformity, and required intracranial volume of each patient.

Beare-Stevenson syndrome: two new patients, including a novel finding of tracheal cartilaginous sleeve.

Beare-Stevenson syndrome (BSS) is a rare FGFR2-associated craniosynostosis syndrome with a higher rate of sudden unexplained death than related conditions such as Apert, Pfeiffer, and Crouzon syndromes. BSS presents with craniosynostosis, cutis gyrata, and significant developmental delay in most patients who survive infancy. There have only been 21 reported patients with BSS, which limits prognostication for clinicians and likely does not capture the full extent of the phenotype. Here we report on two additional patients with molecularly confirmed BSS, one each with p.Ser372Tyr and p.Tyr375Cys mutations in FGFR2. Cloverleaf skull was identified prenatally in one patient, with initial concern for Crouzon syndrome. Prenatal 3D ultrasound was performed, but cutis gyrata was only visible on retrospective examination following the clinical diagnosis of BSS after birth. Due to phenotypic overlap with Crouzon syndrome, but worse prognosis, we recommend consideration of prenatal 3D ultrasound and mutation testing for patients with suspected Crouzon to allow for prenatal diagnosis of BSS and to enable appropriate genetic counseling and postnatal care. One of our patients was noted to have a tracheal cartilaginous sleeve, which if present could explain sudden death. Of note, tracheal cartilaginous sleeves have been reported in other FGFR2-related craniosynostosis syndromes, and are associated with 90% risk of death by two years of age without tracheostomy. Tracheal cartilaginous sleeves are often only found incidentally at autopsy as they are difficult to diagnose without direct visualization of the trachea. This association and our experience suggests that BSS patients be evaluated for tracheal cartilaginous sleeve to prevent airway compromise.

Acanthosis nigricans and hypochondroplasia in a child with a K650Q mutation in FGFR3.

Acanthosis nigricans has been described in several autosomal dominant skeletal dysplasia syndromes due to germline FGFR3 mutations, but rarely specifically in patients with hypochondroplasia. We report a child who presented with extensive acanthosis nigricans, short stature, and radiographic evidence of hypochondroplasia. Genetic analysis revealed a heterozygous K650Q mutation in FGFR3.

Prenatal sonographic appearance of Beare-Stevenson cutis gyrata syndrome: two- and three-dimensional ultrasonographic findings.

Beare-Stevenson cutis gyrata syndrome is characterized by craniofacial anomalies, particularly craniosynostosis, ear defects, cutis gyrata, acanthosis nigricans, anogenit anomalies, skin tags, and prominent umbilical stump. The prenatal two- and three-dimensional ultrasonographic findings of this rare condition is reported. The detection was made at 32 weeks of gestation in a woman with polyhydramnios and fetal head anomaly. The ultrasound appearance and postnatal follow-up are presented.

Acantosis Nigricans de etiología benigna / Acanthosis nigricans of benign etiology

Esta comunicación tiene por objeto presentar un caso de Acantosis nigricans de etiología poco frecuente. La misma se caracteriza por la presencia de placas hiperpigmentadas y de tacto verrugoso aterciopelado, distribuidas simétricamente en áreas de flexión. Estas lesiones pueden ser manifestación de patologías benignas o acompañar a distintas neoplasias, constituyendo en este último caso un síndrome paraneoplásico. El caso que se presenta corresponde a un cuadro de Acantosis nigricans de etiología benigna poco frecuente. (AU)

Diffuse finely nodular lesions of the esophagus.

Double contrast study of the esophagus revealed a variety of diffuse finely nodular lesions, some of which have not been adequately reported. Acanthosis nigricans, superficial spreading esophageal cancer, leukoplakia, moniliasis, and esophagitis were found to produce this appearance. Typical cases of the first three diseases are demonstrated and the differential diagnosis discussed.

Radiological manifestations of oesophageal involvement in acanthosis nigricans.

Radiologic features of two cases of acanthosis nigricans with oesophageal involvement are reported. The first case demonstrated diffuse, granular shadows throughout the oesophagus which were difficult to differentiate from oesophageal moniliasis. Another case showed many discrete and tiny elevations resembling pseudopolyposis of the colon. Emphasis is placed on radiological differential diagnosis from moniliasis and leukoplakia of the oesophagus.