Parry-Romberg syndrome: A case report and literature review

Parry-Romberg syndrome (PRS) is a rare neurocutaneous and craniofacial disorder characterized by progressive hemifacial wasting and atrophy that predominantly affects children and young adults, with an estimated prevalence of 1 in 700,000 individuals. Despite its rarity, PRS poses significant challenges for patients, their families, and healthcare providers due to its unpredictable course and potential functional and aesthetic impairments. The main aim is to provide a comprehensive overview of PRS, encompassing its clinical features, pathogenesis, and management techniques. We present a case of PRS in a 9-year-old female with pronounced facial asymmetry, with marked wasting and atrophy involving the entire right side of the face. CT scan revealed right sided hypoplasia of maxilla, mandible, and zygomatic arch with enophthalmos of right eye. MRI showed right temporalis, medial and lateral pterygoid, masseter, risorius, buccinator, zygomaticus major and minor, levator labii superioris, levatorangulioris and orbicularis oris muscles atrophy. The clinical presentation of PRS typically involves progressive facial atrophy, predominantly affecting the subcutaneous tissues, muscles and bones. Patients may experience various symptoms as the condition advances, including facial asymmetry, hemifacial pain, dental and ocular abnormalities and neurological manifestations. The exact etiology of PRS remains unknown, although autoimmune, genetic and vascular factors are likely contributors. Treatment of PRS needs a multidisciplinary approach involving dermatologists, plastic surgeons, neurologists, ophthalmologists, and dental specialists. Treatment options aim to alleviate symptoms, improve function and address cosmetic concerns. Surgical interventions such as autologous fat grafting, facial reconstructive procedures and orthognathic surgery have restored facial symmetry and function. Additionally, nonsurgical modalities, including botulinum toxin injections, prosthetic devices and dental interventions, may offer symptomatic relief and enhance overall quality of life

Rbf/E2F1 control growth and endoreplication via steroid-independent Ecdysone Receptor signalling in Drosophila prostate-like secondary cells.

In prostate cancer, loss of the tumour suppressor gene, Retinoblastoma (Rb), and consequent activation of transcription factor E2F1 typically occurs at a late-stage of tumour progression. It appears to regulate a switch to an androgen-independent form of cancer, castration-resistant prostate cancer (CRPC), which frequently still requires androgen receptor (AR) signalling. We have previously shown that upon mating, binucleate secondary cells (SCs) of the Drosophila melanogaster male accessory gland (AG), which share some similarities with prostate epithelial cells, switch their growth regulation from a steroid-dependent to a steroid-independent form of Ecdysone Receptor (EcR) control. This physiological change induces genome endoreplication and allows SCs to rapidly replenish their secretory compartments, even when ecdysone levels are low because the male has not previously been exposed to females. Here, we test whether the Drosophila Rb homologue, Rbf, and E2F1 regulate this switch. Surprisingly, we find that excess Rbf activity reversibly suppresses binucleation in adult SCs. We also demonstrate that Rbf, E2F1 and the cell cycle regulators, Cyclin D (CycD) and Cyclin E (CycE), are key regulators of mating-dependent SC endoreplication, as well as SC growth in both virgin and mated males. Importantly, we show that the CycD/Rbf/E2F1 axis requires the EcR, but not ecdysone, to trigger CycE-dependent endoreplication and endoreplication-associated growth in SCs, mirroring changes seen in CRPC. Furthermore, Bone Morphogenetic Protein (BMP) signalling, mediated by the BMP ligand Decapentaplegic (Dpp), intersects with CycD/Rbf/E2F1 signalling to drive endoreplication in these fly cells. Overall, our work reveals a signalling switch, which permits rapid growth of SCs and increased secretion after mating, independently of previous exposure to females. The changes observed share mechanistic parallels with the pathological switch to hormone-independent AR signalling seen in CRPC, suggesting that the latter may reflect the dysregulation of a currently unidentified physiological process