Subject(s)
Cleft Lip/genetics , Peutz-Jeghers Syndrome/genetics , Child , Cleft Lip/surgery , Follow-Up Studies , Humans , Surgical FlapsABSTRACT
Ectropion is unusual in young individuals. Recently, we treated a 19-year-old male college student for epiphora due to bilateral ectropion associated with McArdle's syndrome, a myophosphorylase deficiency. To our knowledge, there have been no previous reports of ectropion and epiphora as a result of this rare glycogen-storage disease.
Subject(s)
Ectropion/surgery , Glycogen Storage Disease Type V/diagnosis , Glycogen Storage Disease/diagnosis , Lacrimal Apparatus Diseases/complications , Adult , Ectropion/complications , Glycogen Storage Disease Type V/complications , Glycogen Storage Disease Type V/enzymology , Humans , Male , Phosphorylase Kinase/analysisABSTRACT
Wegener's granulomatosis (WG), characterized by a necrotizing granulomatous vasculitis, is a rare systemic disease particularly infrequent in children. We report an unusual case of WG in a 16-year-old male patient in whom the cutaneous manifestations were the presenting signs that preceded the upper respiratory symptoms by several months. In addition, the finding of a calcified pulmonary lesion has never been reported in association with WG. Accurate diagnosis of early skin lesions is important in view of the available effective therapy. Clinical and pathologic features of WG and treatment are reviewed.
Subject(s)
Granulomatosis with Polyangiitis/complications , Skin Diseases/etiology , Adolescent , Calcinosis/etiology , Humans , Lung Diseases/etiology , Male , Purpura/etiology , Ulcer/etiologyABSTRACT
Six cases of dysplastic nevus syndrome were diagnosed at this institution. Two cases of the familial form of the dysplastic nevus syndrome (B-K mole syndrome) are discussed in detail to demonstrate the clinical pattern and variance of the genetic expressivity. The reader is also alerted to the possibility of a melanoma occurring in a clinically nonaffected offspring, as a de novo melanoma. Recommendation for comparative photographic documentation and possibly improved means of treatment are discussed.
Subject(s)
Neoplasms, Multiple Primary/genetics , Nevus, Pigmented/genetics , Skin Neoplasms/genetics , Dermabrasion , Fluorouracil/therapeutic use , Humans , Male , Middle Aged , Neoplasms, Multiple Primary/pathology , Neoplasms, Multiple Primary/surgery , Nevus, Pigmented/pathology , Nevus, Pigmented/surgery , Phenotype , Skin Neoplasms/pathology , Skin Neoplasms/surgery , SyndromeABSTRACT
This report describes 2 cases of familial myasthenia gravis presenting as velopharyngeal incompetence. The diagnosis was made only after pharyngoplasty had been done. Symptoms suggesting possible myasthenia gravis are seen in speech therapy and cleft palate clinics, and often labeled "palatal insufficiency" without a more specific diagnosis. In spite of the fact that myasthenia gravis is usually mentioned in the differential diagnosis of velopharyngeal incompetence, it is rarely ruled out by specific studies. We urge that myasthenia gravis be ruled out by definitive tests when the cause of neuromuscular dysfunction cannot be definitely established.
Subject(s)
Myasthenia Gravis/genetics , Velopharyngeal Insufficiency/genetics , Adult , Child , Diagnosis, Differential , Female , Humans , Male , Myasthenia Gravis/diagnosis , Velopharyngeal Insufficiency/etiologyABSTRACT
Reconstruction of a defect of the shoulder and chest wall following resection of extensive basal cell carcinoma is demonstrated using classic principles of flap design and delay. Preservation of the normal tissue in an arm before amputation allowed for closure of a wound that could not be covered with musculocutaneous, omental, or microvascular free flaps.
Subject(s)
Carcinoma, Basal Cell/surgery , Skin Neoplasms/surgery , Amputation, Surgical , Arm/surgery , Humans , Male , Middle Aged , Shoulder/surgery , Skin Transplantation , Sternum/surgery , Transplantation, AutologousABSTRACT
a simple technique to correct the lax oral sphincter has been developed. A wedge resection of the bulky, atonic lower lip is performed leaving a pedicle flap of orbicularis oris muscle on either side of the resection. The muscle flaps are tunnelled submucosally toward the opposit commissures and anchored. This gives excellent stability to the lower lip and prevents drooling.
Subject(s)
Facial Paralysis/surgery , Sialorrhea/surgery , Humans , Male , Muscles/surgeryABSTRACT
We have used a modification of a mucoperiosteal flap described by Lane for cleft palates in 3 patients with oral cavity defects from tumor ablations. The flap provides excellent lining for repairs when alternative flaps are unavailable. The vascularity of the flap and its texture allow a watertight closure which does not hinder the patient's ability to talk or eat.