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Café Au Lait Spot
''Café au lait'' spots, or ''café au lait'' macules, are flat, hyperpigmented birthmarks. The name ''café au lait'' is French for "coffee with milk" and refers to their light-brown color. Café au lait lesions with rough borders (" coast of Maine") may be seen in McCune-Albright syndrome. In contrast, café au lait lesions of neurofibromatosis have smooth borders ("coast of California"). They are caused by a collection of pigment-producing melanocytes in the epidermis of the skin. These spots are typically permanent and may grow or increase in number over time. Café au lait spots are often harmless but may be associated with syndromes such as neurofibromatosis type 1 and McCune–Albright syndrome. Cause Café au lait spots can arise from diverse and unrelated causes: *Ataxia–telangiectasia * Basal cell nevus syndrome * Benign congenital skin lesion * Bloom syndrome * Chédiak–Higashi syndrome * Congenital melanocytic naevus *Fanconi anemia * Gaucher disease * Hunter ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Birthmark
A birthmark is a congenital, benign irregularity on the skin which is present at birth or appears shortly after birth—usually in the first month. They can occur anywhere on the skin. Birthmarks are caused by overgrowth of blood vessels, melanocytes, smooth muscle, fat, fibroblasts, or keratinocytes. Dermatologists divide birthmarks into two types: pigmented birthmarks and vascular birthmarks. Pigmented birthmarks caused by excess skin pigment cells include: moles, café au lait spots, and Mongolian spots. Vascular birthmarks, also called red birthmarks, are caused by increased blood vessels and include macular stains (salmon patches), hemangiomas, and port-wine stains. A little over 1 in 10 babies have a vascular birthmark present by age 1. Several birthmark types are part of the group of skin lesions known as nevi or naevi, which is Latin for "birthmarks". Birthmarks occur as a result of a localized imbalance in factors controlling the development and migration of skin ce ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Maffucci Syndrome
Maffucci syndrome is a very rare disorder in which multiple benign tumors of cartilage develop within the bones (such tumors are known as enchondromas). The tumors most commonly appear in the bones of the hands, feet, and limbs, causing bone deformities and short limbs. It is named for the Italian pathologist Angelo Maffucci who described it in 1881. Fewer than 200 cases of this syndrome have been reported. Signs and symptoms Patients are normal at birth and the syndrome manifests during childhood. The enchondromas affect the extremities and their distribution is asymmetrical. The most common sites of enchondromas are the metacarpal bones and phalanges of the hands. The feet are less commonly affected. Disfigurations of the extremities are a result. Pathological fractures can arise in affected metaphyses and diaphyses of the long bones and are common (26%). The risk for sarcomatous degeneration of enchondromas, hemangiomas, or lymphangiomas is 15–30% in the setting of Maffucc ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Neurofibromatosis Type 1
Neurofibromatosis (NF) is a group of three conditions in which tumors grow in the nervous system. The three types are neurofibromatosis type I (NF1), neurofibromatosis type II (NF2), and schwannomatosis. In NF1 symptoms include light brown spots on the skin, freckles in the armpit and groin, small bumps within nerves, and scoliosis. In NF2, there may be hearing loss, cataracts at a young age, balance problems, flesh colored skin flaps, and muscle wasting. In schwannomatosis there may be pain either in one location or in wide areas of the body. The tumors in NF are generally non-cancerous. The cause is a genetic mutation in certain oncogenes. These can be inherited from a person's parents, or in about half of cases spontaneously occur during early development. Different mutations result in the three types of NF. Neurofibromatosis arise from the supporting cells of the nervous system rather than the neurons themselves. In NF1, the tumors are neurofibromas (tumors of the p ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Neurofibromatosis Type 1
Neurofibromatosis (NF) is a group of three conditions in which tumors grow in the nervous system. The three types are neurofibromatosis type I (NF1), neurofibromatosis type II (NF2), and schwannomatosis. In NF1 symptoms include light brown spots on the skin, freckles in the armpit and groin, small bumps within nerves, and scoliosis. In NF2, there may be hearing loss, cataracts at a young age, balance problems, flesh colored skin flaps, and muscle wasting. In schwannomatosis there may be pain either in one location or in wide areas of the body. The tumors in NF are generally non-cancerous. The cause is a genetic mutation in certain oncogenes. These can be inherited from a person's parents, or in about half of cases spontaneously occur during early development. Different mutations result in the three types of NF. Neurofibromatosis arise from the supporting cells of the nervous system rather than the neurons themselves. In NF1, the tumors are neurofibromas (tumors of the p ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Wiskott–Aldrich Syndrome
Wiskott–Aldrich syndrome (WAS) is a rare X-linked recessive disease characterized by eczema, thrombocytopenia (low platelet count), immune deficiency, and bloody diarrhea (secondary to the thrombocytopenia). It is also sometimes called the eczema-thrombocytopenia-immunodeficiency syndrome in keeping with Aldrich's original description in 1954. The WAS-related disorders of X-linked thrombocytopenia (XLT) and X-linked congenital neutropenia (XLN) may present with similar but less severe symptoms and are caused by mutations of the same gene. Signs and symptoms WAS occurs most often in males due to its X-linked recessive pattern of inheritance, affecting between 1 and 10 males per million. The first signs are usually petechiae and bruising, resulting from a low platelet count (i.e. thrombocytopenia). Spontaneous nose bleeds and bloody diarrhea are also common and eczema typically develops within the first month of life. Recurrent bacterial infections typically develop by three mont ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Watson Syndrome
Watson syndrome is an autosomal dominant condition characterized by Lisch nodules of the ocular iris, axillary/inguinal freckling, pulmonary valvular stenosis, relative macrocephaly, short stature, and neurofibromas. Watson syndrome is allelic to ''NF1'', the same gene associated with neurofibromatosis type 1. See also * Westerhof syndrome Westerhof syndrome is a cutaneous condition inherited in an autosomal dominant fashion, characterized by congenital hypopigmented macules. See also * Watson syndrome * List of cutaneous conditions Many skin conditions affect the human in ... * List of cutaneous conditions References External links Genodermatoses Rare syndromes {{Genodermatoses-stub ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Tuberous Sclerosis
Tuberous sclerosis complex (TSC) is a rare multisystem autosomal dominant genetic disease that causes non-cancerous tumours to grow in the brain and on other vital organs such as the kidneys, heart, liver, eyes, lungs and skin. A combination of symptoms may include seizures, intellectual disability, developmental delay, behavioral problems, skin abnormalities, lung disease, and kidney disease. TSC is caused by a mutation of either of two genes, ''TSC1'' and '' TSC2'', which code for the proteins hamartin and tuberin, respectively, with ''TSC2'' mutations accounting for the majority and tending to cause more severe symptoms. These proteins act as tumor growth suppressors, agents that regulate cell proliferation and differentiation. Prognosis is highly variable and depends on the symptoms, but life expectancy is normal for many. The prevalence of the disease is estimated to be 7 to 12 in 100,000. The disease is often abbreviated to tuberous sclerosis, which refers to the h ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Silver–Russell Syndrome
Silver–Russell syndrome (SRS), also called Silver–Russell dwarfism, is a rare congenital growth disorder. In the United States it is usually referred to as Russell–Silver syndrome (RSS), and Silver–Russell syndrome elsewhere. It is one of 200 types of dwarfism and one of five types of primordial dwarfism. Silver–Russell syndrome occurs in approximately one out of every 50,000 to 100,000 births. Males and females seem to be affected with equal frequency. Signs and symptoms Although confirmation of a specific genetic marker is in a significant number of individuals, there are no tests to clearly determine if this is what a person has. As a syndrome, a diagnosis is typically given for children upon confirmation of the presence of several symptoms listed below. Symptoms are intrauterine growth restriction (IUGR) combined with some of the following: * Often small for gestational age (SGA) at birth (birth weight less than 2.8 kg) * Feeding problems: the baby is unintere ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Noonan Syndrome
Noonan syndrome (NS) is a genetic disorder that may present with mildly unusual facial features, short height, congenital heart disease, bleeding problems, and skeletal malformations. Facial features include widely spaced eyes, light-colored eyes, low-set ears, a short neck, and a small lower jaw. Heart problems may include pulmonary valve stenosis. The breast bone may either protrude or be sunken, while the spine may be abnormally curved. Intelligence in the syndrome is often normal. Complications of NS can include leukemia. A number of genetic mutations can result in Noonan syndrome. The condition may be inherited from a person's parents as an autosomal dominant condition or occur as a new mutation. Noonan syndrome is a type of RASopathy, the underlying mechanism for which involves overactivation within the RAS/MAPK cell signaling pathway. The diagnosis may be suspected based on symptoms, medical imaging, and blood tests. Confirmation may be achieved with genetic tes ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Familial Multiple Cafe-au-lait Spots
Familial multiple cafe au lait spots, also known as Autosomal dominant multiple cafe au lait spots or Neurofibromatosis type 6, is a rare, cutaneous genetic disorder which is characterized by the hereditary cutaneous presence of several cafe-au-lait spots without any other symptoms of neurofibromatosis Neurofibromatosis (NF) is a group of three conditions in which tumors grow in the nervous system. The three types are neurofibromatosis type I (NF1), neurofibromatosis type II (NF2), and schwannomatosis. In NF1 symptoms include light brown sp .... Sporadic cases may be called "Sporadic multiple cafe au lait spots". Few cases have been described in medical literature, although it is estimated that the presence of multiple cafe au lait spots without NF1 is rare (but not extremely rare) among the general population. History It was first discovered when ''Riccardi et al.'' described multiple families with cafe-au-lait spots and no association for neurofibromatosis in 1980. I ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
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