Massive Retinal Gliosis in Neurofibromatosis Type 1 Neurofibromatosis type 1 (NF1), an autosomal dominant syndrome, has major extraocular expressions of bilateral ptosis, diffuse and plexiform neurofibromas, optic nerve gliomas, and dysplasia of the sphenoid bone. With respect to the eyeball, the spectrum of involvement includes enlarged corneal nerves, Lisch iris nodules, dysplasia of the ante...

Punctate leukoderma presents as numerous, distinct, round or oval depigmented spots. Recently, laser therapy-induced punctate leukoderma associated with various Q-switched laser and carbon dioxide laser have been reported. A 25-year-old man presented with numerous, discrete, round, confetti-like, depigmented macules on his left neck. He had undergone 3 sessions of 532-nm Q-switched Neodymium: Y...

Malignant peripheral nerve sheath tumor is a rare tumor occurring in 5%-10% of all malignant soft tissues sarcomas and triton tumor arising from neurofibromatosis type 1 (NF-1) is even rarer with associated high rate of mortality. No case of triton tumor has been reported in Nigeria to the best of our knowledge. We seek to report a case of lately detected retroperitoneal triton tumor presenting...

The classical triad of McCune-Albright syndrome (MAS) consists of polyostotic fibrous dysplasia (FD), skin hyperpigmentation (café-au-lait spots), and endocrine dysfunction, frequently seen in females as precocious puberty. Etiology is genetically based and is explained by mosaicism of activating somatic mutations of the alpha-subunit of Gs protein. Clinical presentation is varied and is depend...

To the Editor: Neurofibromatosis type 1 (NF-1) is a hereditary disorder commonly associated with cutaneous, neurologic, and orthopedic manifestations.1 Psoriasis is a chronic multifactorial skin condition characterized by erythematous scaly plaques that affect the scalp, trunk, extensor surfaces of the limbs, and genital region. The condition affects 2% to 4% of the population in Western countr...

the classical triad of mccune-albright syndrome (mas) consists of polyostotic fibrous dysplasia (fd), skin hyperpigmentation (café-au-lait spots), and endocrine dysfunction, frequently seen in females as precocious puberty. etiology is genetically based and is explained by mosaicism of activating somatic mutations of the alpha-subunit of gs protein. clinical presentation is varied and is depend...

SUMMARY Neurofibromatosis, an autosomal dominant disorder is characterized by showan cell tumor affecting any Part of the body containing such cell, giving rise to appropriate fealture according to the organ involved but the most characteristic clinical aspect of the disease is pripheral or cranial nerve tumors usually associated with cafe au lait spots more than 6 in number and larger than 1....

Bloom syndrome is an extremely rare inherited disorder. We present a case of Bloom syndrome with a chromosomal study in a Mexican five-year-old patient who presented growth retardation, narrow facies with poikiloderma, café-au-lait, macules and photosensitivity.