Ankylosing spondylitis (AS) is a systemic disease primarily characterized by the inflammation of sacroiliac joints and axial skeleton. Neurofibromatosis type 1 (NF1) is a multisystem genetic disease which is characterized by cutaneous findings, most importantly café-au-lait spots and axillary freckling, by skeletal dysplasia, and by the growth of both benign and malignant nervous system neoplas...

Bloom’s syndrome (BS) is a rare, autosomal recessive disease characterized by short stature, erythematous skin lesions with photosensitivity, hypo- and hyperpigmentation and recurrent bacterial infections due to immune deficiency. We report a 13-year old girl with erythema and telangiectasia in butterfly distribution on face, photosensitivity, multiple café au lait spots on trunk and extremitie...

Type 1 neurofibromatosis (NF1), also known as von Recklinghausen disease, is the most common of the so-called neurocutaneous syndromes. It is a genetic disorder of autosomal dominant inheritance with complete penetrance and highly variable clinical expression. Its incidence rate is 1/3000--4000. Approximately half the cases are inherited, and the rest are de novo mutations. The most characteris...

We report a case of sudden death in a 28-year-old male diagnosed with neurofibromatosis at the age of 6 years. The patient had multiple café-au-lait spots which, although being benign, were an ominous sign in this context. The immediate cause of death was intrathoracic neurofibroma causing compression that led to fracture of the thoracic vertebrae and laceration of the aorta with massive hemoth...

McCune Albright syndrome is diagnosed by a constellation of Café-au-lait spots, multiostosis fibrous dysplasia and precocious puberty. Other endocrine dysfunctions which are often associated are growth hormone excess, hyperthyroidism, Cushings syndrome, hyperprolactinemia and phosphate wasting. Its prevalence is 1:100000–1:1000000 in different ethnicity [1]. It is a rare cause of precocious pub...

A 13-year-old girl presented with features of intestinal obstruction. At surgery, the terminal 25 cm of ileum, which was resected along with the right colon, showed plexiform neurofibromatosis of the serosa and mesentery, hyperplastic submucosal and myenteric nerve plexuses and proliferation of neural tissue in the lamina propria, which manifested as diffuse polyposis of the ileal mucosa. The p...

The syndrome of McCune-Albright syndrome (MAS) is clasically defined as a triad presentation with the findings of polyostotic fibrous dysplasia, café-au-lait spots, and sexual precocity. However, not all patients present with complete symptoms. A 52-year-old man was diagnosed as having a variant of McCune-Albright syndrome with the following findings: polyostotic fibrous dysplasia, acromegaly d...

A 40-year-old woman presented with an itchy erythematosquamous change of a café-au-lait spot in her face. The onset of this change occurred just after her relocation. The café-au-lait spot had been irradiated by laser approximately 20 years ago. Clinically, there was a coin-sized erythema with a slight scale on the pigmented lesion in the left lateral orbital region. Histopathologically, the le...

McCune-Albright syndrome is characterized by the triad café-au-lait cutaneous spots, polyostotic fibrous dysplasia and endocrinopathies. This article presents two cases of McCune-Albright syndrome in a middle-aged woman and a young girl. Both patients presented café-au-lait spots on the face and other parts of the body and expansion of the mandible with radiopaque-radiolucent areas with ground-...

McCune-Albright Syndrome is a rare syndrome characterized with excessive function of peripheral endocrine organs and activating mutations of the stimulatory G protein alpha subunit are involved in the pathogenesis. The three main findings of the disease include hyperpigmented café au lait spots, fibrous dysplasia and increased endocrine functions and excessive secretion of growth hormone is obs...