This should be considered if patients develop any systemic symptoms
Generalized eruption of cutaneous mastocytosis (adult type) is the most common pattern of mastocytosis presenting to the dermatologist, with the most common lesions being macules, papules, or nodules that are disseminated over most of the body but especially on the upper arms, legs, and trunk
Diffuse cutaneous mastocytosis has diffuse involvement in which the entire integument may be thickened and infiltrated with mast cells to produce a peculiar orange color, giving rise to the term "homme orange. "Cutaneous mastocytosis in children usually presents in the first year after birth and in most cases vanishes during adolescence. Systemic mastocytosis (SM)
Systemic mastocytosis involves the bone marrow in the majority of cases and in some cases other internal organs, usually in addition to involving the skin. Mast cells collect in various tissues and can affect organs where mast cells do not normally inhabit such as the liver, spleen and lymph nodes, and organs which have normal populations but where numbers are increased. In the bowel, it may manifest as mastocytic enterocolitis. However, normal ranges for mast cell counts in the gastrointestinal tract mucosa are not well established in the literature, and depend upon the exact location (e.g. right versus left colon), gender, and patient populations (such as asymptomatic patients versus patients with chronic diarrhea of unknown etiology). Quantitative mast cell stains may yield little diagnostic information, and further research studies are warranted to determine whether "mastocytic enterocolitis" truly represents a distinct entity.There are five types of systemic mastocytosis:
Indolent systemic mastocytosis (ISM).
Osteopathia striata with cranial sclerosis (OSCS) is a rare genetic entity characterized by osseous abnormalities. Signs and symptoms
Symptoms and their severity vary person to person but generally people with OSCS have generalized dysplasia of the distal parts of the long bones, cranial sclerosis (that is, the hardening of bones in the face and head), macrocephaly (abnormally large head), and cleft palate. Developmental delay, hearing loss, congenital heart defects, alongside feeding and breathing (dyspnea) difficulties are common as well, although they are not seen in all cases. Complications
The feeding and breathing difficulties that are sometimes associated with OSCS can result in starvation, nutritional deficiencies, and/or respiratory arrest if they remain untreated, which may result in early death. Treatment
Although OSCS has no cure, it can be treated and managed. Treatment is symptom-specific, for example: avoiding areas with air pollution (e.g., big cities, smoking areas, etc. ), high-altitude areas, and physically exhausting activities can reduce breathlessness episodes (breathing difficulties). Causes
This condition is caused by X-linked dominant mutations in the AMER1 gene, in the X chromosome. Prevalence
According to OMIM, the total number of cases described in medical literature is between 70 and 90. == References ==