ABSTRACT
The lacrimo-auriculo-dento-digital syndrome, also known as Levy-Hollister syndrome, is a rare multiple congenital dysplasia characterized by malformation of the lacrimal apparatus and by aural, dental, and digital anomalies. Since the first report in 1973, different clinical findings such as urogenital malformations and facial dysmorphism have been described in the affected patients, showing that the phenotypic spectrum of the syndrome is broad. The authors report for the first time an association among giant dacryocystocele, alacrima, and agenesis of the lacrimal puncta in a patient with lacrimo-auriculo-dento-digital syndrome.
Subject(s)
Eye Diseases, Hereditary/etiology , Hearing Loss/complications , Lacrimal Apparatus Diseases/etiology , Mucocele/etiology , Syndactyly/complications , Tooth Abnormalities/complications , Abnormalities, Multiple/diagnosis , Adolescent , Eye Diseases, Hereditary/diagnosis , Female , Hearing Loss/diagnosis , Humans , Lacrimal Apparatus Diseases/complications , Lacrimal Apparatus Diseases/diagnosis , Magnetic Resonance Imaging , Mucocele/diagnosis , Nasolacrimal Duct/diagnostic imaging , Nasolacrimal Duct/pathology , Syndactyly/diagnosis , Tomography, X-Ray Computed , Tooth Abnormalities/diagnosisABSTRACT
A 68-year-old woman presented with a nodular pretarsal tumor on her right upper eyelid that had slowly grown over 6 months. Excisional biopsy was performed through an eyelid crease approach, and histopathology evidenced the lesion to be steatocystoma simplex. Steatocystoma simplex is an uncommon benign cutaneous lesion thought to be a circumscribed malformation arising from the pilosebaceous duct junction, rarely reported to occur in the periorbital region.
Subject(s)
Epidermal Cyst/pathology , Eyelid Diseases/pathology , Aged , Diagnosis, Differential , Epidermal Cyst/surgery , Eyelid Diseases/surgery , Female , Follow-Up Studies , HumansABSTRACT
The Richieri-Costa/Pereira form of acrofacial dysostosis is an autosomal-recessive condition characterized by short stature, Pierre-Robin sequence, preaxial and postaxial abnormalities in hands, congenital talipes, cleft mandible and malformations of the larynx. We report female infant presenting with severe micrognathia, a hypoplasic clavicle, median mandible cleft, bilateral hand abnormalities and talipes, laryngeal malformations, hip subluxation with acetabular dysplasia and mesomelic shortening of limbs. A few reported patients have clavicular hyploplasia but hip subluxation with acetabular dysplasia and mesomelic shortening of limbs have not been described.
