What is a phakomatoses?

The term phakomatoses refers to a broad group of neurologic (brain, spine, and peripheral nerve) disorders that are also known as neurocutaneous syndromes.

What are the symptoms of phakomatoses?

Most commonly, the syndrome causes neurological complications, especially epilepsy and seizures, learning difficulties, diabetes mellitus, and other cardiac and renal complications. Dental defects including hyperplastic gingivitis are also symptomatic of this condition.

What is a Neurocutaneous disorder?

Neurocutaneous syndromes are disorders that affect the brain, spinal cord, organs, skin, and bones. The diseases are lifelong conditions that can cause tumors to grow in these areas. They can also cause other problems such as hearing loss, seizures, and developmental problems.

What is phakomatosis pigmentovascularis?

Phakomatosis pigmentovascularis (PPV) is a rare congenital malformation syndrome that is characterized by a combination of capillary abnormalities and dermal melanocytosis that are present from birth and have been classified by Hasefawa and Yasuhara into 4 types according to the different characteristics of the …

Is NF1 a disease?

Neurofibromatosis 1 (NF1), also called von Recklinghausen’s disease, is a genetic disorder characterized by the development of multiple noncancerous (benign) tumors of nerves and skin (neurofibromas) and areas of abnormal skin color (pigmentation).

What are Neurocutaneous markers?

What is adenoma Sebaceum?

As described by Osborne,[1] the term adenoma sebaceum is a commonly used misnomer for facial angiofibromas occurring as a skin manifestation of tuberous sclerosis. These lesions appear in infancy or early childhood in a characteristic butterfly-shaped pattern[2] over both cheeks and the nose.

What is ash leaf spots?

Hypopigmented macules, also known as “ash-leaf spots,” can be present at birth and are most common on the trunk and lower extremities. They appear in 80 percent of persons with tuberous sclerosis by one year of age. Thus, they are the earliest indicator of this disorder.

Is NF1 curable?

While there is currently no cure for NF1, there are clinical trials available at the Johns Hopkins Comprehensive Neurofibromatosis (NF) Center.

Why is NF1 autosomal dominant?

NF is considered an autosomal dominant disorder because the gene is located on one of the 22 chromosome pairs, called autosomes. The gene for NF1 is located on chromosome 17. The gene for NF2 is located on chromosome 22. Children have a 50 percent chance of inheriting the genes that cause NF if the parent has NF.

What causes Neurocutaneous syndrome?

Neurocutaneous syndromes are disorders that lead to growth of tumors in various parts of the body. They’re caused by the abnormal development of cells in an embryo and characterized by the tumors in various parts of the body (including the nervous system) and by certain differences in the skin.

Where are adenomas found?

Where do adenomas originate? An adenoma is a benign tumor originating in glandular tissue. The tissues affected are part of a larger tissue category known as epithelial tissues. Epithelial tissues line skin, glands, cavities of organs etc.

What is the meaning of phakomatosis?

Phakomatosis. Phakomatoses refers to a group of neuro-oculo-cutaneous syndromes or neurocutaneous disorders involving structures arising from the embryonic ectoderm. These multisystem disorders involve the ectodermal structures like central nervous system, skin and eyes. The lesions have a variable severity.

What is Phakomatosis pigmentovascularis (PPV)?

Phakomatoses, or phacomatosis pigmentovascularis (PPV), is the term used for a group of rare syndromes involving structures arising from the embryonic ectoderm. These are characterised by vascular and pigmentary birthmarks or skin lesions, and often involving multiple organ systems in the body.

What is the ICD-9 code for phakomatosis?

ICD-9-CM: 759.5 – 759.6 Phakomatosis ( Q85, 759.5–759.6) This article about a medical condition affecting the nervous system is a stub. You can help Wikipedia by expanding it.

Is Sturge Weber syndrome a phakomatose?

INTRODUCTION: Sturge-Weber syndrome (SWS) belongs to a group of disorders collectively known as the phakomatoses (“mother-spot” diseases). The phakomatoses are a group of hereditary disorders that affect structures of ectodermal origin.