odontogenic keratocysts (okcs) are one of the most frequent features of nevoid basal cell carcinoma syndrome (nbs). it is linked with mutation in the ptch gene. partial expression of the gene may result in occurrence of only multiple recurring okc. our patient presented with nine cysts with multiple recurrences over a period of 11 years without any other manifestation of the syndrome.

The patient was a 19-year-old woman with chronic headache, hand tremor, and school difficulties. The examination revealed large subcutaneous nodules, epidermal nevus, gigantism of the feet, hypertrophy of the hemibody, and mild postural hand tremor. The magnetic resonance imaging (MRI) showed distortion in the morphology of cerebellar folia, increased size of the cerebellum, and foci hypersigna...

Linear Nevus Sebaceous Syndrome (LNSS) is a rare sporadic oculoneurocutaneous disorder, also classified as Organoid Nevus Syndrome. It consists of a triad of midline facial linear nevus sebaceous, central nervous system and ocular abnormalities. To the best of authors' knowledge ophthalmic features of LNSS have never been reported in Pakistani population. We report two cases of LNSS, associated...

Mutations in PATCHED (PTC), the human homolog of the Drosophila patched gene, have been identified in most exons of the gene in patients with the basal cell nevus syndrome and in sporadic basal cell carcinomas. We have screened the 23 PTC exons for mutations using single strand conformation polymorphism analysis of DNA from 86 basal cell nevus syndrome probands, 26 sporadic basal cell carcinoma...

to malignant melanoma. The exact cause is unknown. There may be hereditary factors, autosomal dominance or other multifactor determinants. Management depends upon size, location and malignant transformation. Surgical excision is the mainstay of treatment. Cultured epidermal autograph has been used successfully to cover postoperative large surface area defect. We report a one-day-old male child ...

Sturge Weber syndrome is a rare sporadic neurocutaneous syndrome. It has extra -oral manifestations mostly in form of unilateral port wine stain on face that are ipsilateral to intra-cranial lesions (mostly lepto-meningeal angioma), seizures, glaucoma and intra-orally by hemangioma gingiva. We case report child with facial nevus opposite lesion, intra-oral gum hypertrophy. Other than contralate...

CLOVES syndrome is a complex disorder of congenital lipomatous overgrowth, vascular malformations, epidermal nevi, and skeletal/scoliosis/spinal anomalies. We report the occurrence of spinal-paraspinal fast-flow lesions within or adjacent to the truncal overgrowth or a cutaneous birthmark in 6 patients with CLOVES syndrome.