ABSTRACT
The neonatal progeroid syndrome (NPS), or Wiedemann-Rautenstrauch, is a rare autosomal recessive disorder comprised of generalized lipoatrophy except for fat pads in the suprabuttock areas, hypotrichosis of the scalp hair, eyebrows, and eyelashes, relative macrocephaly, triangular face, natal teeth, and micrognathia. We report on 5 new patients who demonstrate phenotypic variability and who represent the single largest series of NPS reported to date. Two of the patients are from an African-American kindred, an ethnic occurrence not reported previously. The fact that there are 2 pairs of sibs among the 5 patients further supports that NPS is an autosomal recessive condition. This report also includes a review of the previously reported 16 patients and compares them with the 5 new patients. Abnormalities in endocrine and lipid metabolism were found in 3 of 5 patients. Skeletal findings in 2 of our patients demonstrated some new findings as well as the typical radiological abnormalities previously noted in NPS. It is apparent, based on the 21 cases, that mild to moderate mental retardation is common in NPS. Long term follow-up of patients with NPS should provide more information relative to their ultimate psychomotor development. NPS is usually lethal by 7 months; however, on rare occasions, patients have survived into the teens. Our 3 surviving patients range in age from 16-23 months. Variability in the phenotype of NPS is clear; however, the phenotype remains distinct enough to allow a secure diagnosis.
Subject(s)
Abnormalities, Multiple , Progeria , Abnormalities, Multiple/diagnostic imaging , Abnormalities, Multiple/pathology , Adipose Tissue/abnormalities , Female , Humans , Infant, Newborn , Male , Radiography , SyndromeABSTRACT
Neurofibromas and schwannomas are orbital neoplasms with similar clinical and radiologic features. Solitary or circumscribed neurofibromas and schwannomas demonstrate slow progressive growth with ocular displacement and are amenable to surgical resection. Plexiform and diffuse neurofibromas are diffusely infiltrative in the orbit and periocular region, they are difficult to resect, and they have a high rate of recurrence. Malignant peripheral nerve tumors are rare, but they have a very high rate of recurrence and a low 5-year survival rate because of extension through the superior orbital fissure to the midbrain region. This article describes the clinical and radiologic features of peripheral nerve sheath tumors.
Subject(s)
Orbital Neoplasms/diagnosis , Peripheral Nervous System Neoplasms/diagnosis , Disease Progression , Humans , Neoplasm Invasiveness , Neoplasm Recurrence, Local/pathology , Neurilemmoma/diagnosis , Neurilemmoma/pathology , Neurofibroma/diagnosis , Neurofibroma/pathology , Orbital Neoplasms/pathology , Peripheral Nervous System Neoplasms/pathology , Prognosis , Survival RateABSTRACT
PURPOSE: The purpose of this article is to demonstrate how mobilization of the orbicularis oculi muscle can improve viability, appearance, and function of free skin grafts in the periocular region. By enhancing blood supply with this technique, healing often can be achieved in difficult reconstructive cases. METHODS: Seven patients underwent orbicularis muscle mobilization before placement of free skin grafts. Two patients underwent resection of basal cell carcinomas of the lateral eyelids and canthal region requiring complex reconstructive techniques such as lateral canthal tendon reconstruction with auricular cartilage. One patient underwent upper eyelid reconstruction after total resection for sebaceous cell carcinoma with pagetoid spread. Two patients had difficult wound dehiscences that were difficult to repair primarily. In addition, the lower eyelid with recurrent basal cell carcinomas of two patients who initially had undergone reconstruction with a Hughes procedure was reconstructed using tarsal strip grafts and orbicularis muscle mobilization combined with a free skin graft. RESULTS: All seven patients have viable free grafts to date, and no further problems occurred in the two patients with wound dehiscences. Follow-up ranges from 1 to 8 years. CONCLUSION: Orbicularis oculi muscle mobilization can be combined with a variety of techniques in eyelid and periorbital surgery, including difficult wound repair, reconstruction of the lateral canthal tendon with periosteal flaps or auricular cartilage, tarsal transposition flaps, mucosal grafts, and skin grafts. The addition of this technique can enhance the blood supply to the reconstructed area and allow healing which might not be obtained otherwise.
