Neurofibromatosis type I (NF1) (OMIM, 162200) and Legius syndrome (OMIM, 611431) both have multiple café au lait spots. It is a challenge to differentiate the two diseases. Here we report a Legius syndrome-like patient who finally was identified as NF1 with a novel mutation in NF1 exon1 (c.55G > T). The mutation caused a substitution of a glutamic acid (GAG) with a terminator codon (TAG). For t...

Neurofibromatosis and fibrous dysplasia show the presence of café-au-lait spots, bone lesions, and endocrinopathies. There has been speculation whether neurofibromatosis and fibrous dysplasia are different manifestations of the same disease or if these conditions are in some way related. We provide a case of whether neurofibromatosis and fibrous dysplasia complicated by hyperparathyroidism and ...

Neurofibromatosis type 1 (NF1) is classically defined by the presence of multiple café-au-lait macules as one of the diagnostic criteria. Turner syndrome (TS) can also present with café-au-lait macules along with short stature. Our patient is the fifth reported with both NF1 and TS and the first who has been on growth hormone for short stature associated with TS.

Objective Fibrous dysplasia (FD) presents as skeletal lesions in which normal bone is replaced by abnormal fibrous tissue due to mosaic GNAS mutation. McCune-Albright syndrome (MAS) refers to FD combined with skin (café-au-lait) and endocrine manifestations. This study describes the clinical childhood manifestations of polyostotic FD and MAS in a Nordic cohort. Patients and design We retrospe...

Von Recklinghausen's neurofibromatosis (NF-1) is a phacomatosis characterised by widespread nervous system tumours with cutaneous manifestations and variably associated anomalies. We report here a case, who, in addition to classical features of NF-1 (café-au-lait spots, cutaneous and subcutaneous neurofibromas) demonstrated radiological evidence of both spinal and intracranial neurofibromas and...

Johanson Blizzard syndrome (JBS) is a rare multi-system disorder characterized by congenital aplasia or hypoplasia of alae nasi, exocrine pancreatic insufficiency, hypothyroidism, deafness, growth retardation, varying degree of mental retardation, alopecia, wide open fontanels, anti-mongoloid slant, café-au-lait spots and absent of permanent teeth. We report a 3 months old male child having Joh...

Type I Neurofibromatosis (NF1) is a dominant autosomal disease. Its prognosis is related to the development of tumors that may evolve to malignancy. It is characterized by multiple café-au-lait spots, skeletal defects, optical gliomas, Lisch nodules and neurofibromas. Plexiform neurofibromas (PN) are one of the many possible findings on patients affected by the disease. This paper aims at repor...

Neurofibromatosis type 1 (NF1) and AIDS are risk factors for the development of malignant neoplasms, including hematological malignancies, such as non-Hodgkin lymphoma. NF1 is an autosomal dominant disease that primarily manifests as café-au-lait spots, dermal neurofibromas, axillary and/or inguinal ephelides or freckles, plexiform neurofibromas, Lisch nodules, and bone deformities. In this rep...

A sixteen year old girl presented with history of hemoptysis of one week duration. She had history of dyspnea on exertion and frequent respiratory infections in childhood. She had short stature, hypertelorism, neurofibroma, café au lait spots and multiple lentigines. She had features of severe pulmonary hypertension and differential clubbing and cyanosis. A final diagnosis of LEOPARD syndrome w...

Growth retardation (70% of cases). Skin abnormalities: hyperpigmentation and/or café au lait spots in 80%. Squeletal malformations (60%), particularly radius axis defects (absent or hypoplastic thumb or radius...). No immune deficiency (in contrast with most other chromosome instability syndromes). Progressive bone marrow failure; mean age of onset of anemia: 8 yrs; diagnosis made before onset ...