Extracutaneous mastocytoma

Extracutaneous mastocytoma

Synonyms
Pronounce	N/A
Specialty	Dermatology, Oncology
Symptoms	Skin lesions, pruritus
Complications
Onset
Duration
Types
Causes	Mast cell proliferation
Risks
Diagnosis	Biopsy, Histopathology
Differential diagnosis	Urticaria pigmentosa, Cutaneous mastocytosis
Prevention
Treatment	Antihistamines, Corticosteroids
Medication
Prognosis	Generally good
Frequency	Rare
Deaths	N/A

Extracutaneous mastocytoma is a rare form of mastocytosis, a condition characterized by an abnormal accumulation of mast cells in various tissues of the body. Unlike other forms of mastocytosis, extracutaneous mastocytoma primarily affects internal organs rather than the skin.

Etiology[edit]

The exact cause of extracutaneous mastocytoma is unknown. However, it is believed to be related to mutations in the KIT gene, which plays a crucial role in the development and function of mast cells.

Symptoms[edit]

Symptoms of extracutaneous mastocytoma can vary widely depending on the organs affected. Common symptoms include abdominal pain, nausea, vomiting, diarrhea, and anaphylaxis in severe cases.

Diagnosis[edit]

Diagnosis of extracutaneous mastocytoma typically involves a combination of blood tests, imaging studies, and biopsy of affected tissues. The presence of excessive mast cells in these tissues confirms the diagnosis.

Treatment[edit]

Treatment for extracutaneous mastocytoma is primarily aimed at managing symptoms and preventing complications. This may involve the use of medications to control the release of substances from mast cells, such as antihistamines, corticosteroids, and mast cell stabilizers.

Prognosis[edit]

The prognosis for individuals with extracutaneous mastocytoma can vary widely. Some individuals may experience mild symptoms and lead normal lives, while others may experience severe symptoms and complications that can be life-threatening.

NIH genetic and rare disease info[edit]

NIH info on Extracutaneous mastocytoma

Extracutaneous mastocytoma is a rare disease.

Rare and genetic diseases

Rare diseases - Extracutaneous mastocytoma

A-Z list of rare diseases	* 0-9 \| A - B - C - D - E - F - G - H - I - J - K - L - M - N - O - P - Q - R - S - T - U - V - W - X - Y - Z
Also see	* Comprehensive list of genetic and rare diseases
Resources	* NIH GARD, US Genetic and Rare Diseases Info Rare Disease Day Undiagnosed Diseases Network Database of rare diseases at Orphanet Rare Disease UK Rare diseases search engine

Dermatology and Skin conditions

General	* Acne Eczema Psoriasis Rosacea Seborrheic dermatitis Melanoma Basal cell carcinoma Squamous cell carcinoma
Infections	* Athlete's foot Cellulitis Herpes simplex Impetigo Scabies Ringworm
Autoimmune	* Lupus erythematosus Vitiligo Scleroderma Alopecia areata
Genetic	* Epidermolysis bullosa Ichthyosis Neurofibromatosis Psoriasis
Procedures	* Skin biopsy Mohs surgery Laser therapy for the skin Photodynamic therapy Cryotherapy

This dermatology-related article is a stub. You can help WikiMD by expanding it.

Genetic disorders relating to deficiencies of transcription factor or coregulators

(1) Basic domains

1.2	* Feingold syndrome Saethre–Chotzen syndrome
1.3	* Tietz syndrome

(2) Zinc finger
DNA-binding domains

2.1	* (Intracellular receptor): Thyroid hormone resistance Androgen insensitivity syndrome PAIS MAIS CAIS Kennedy's disease PHA1AD pseudohypoaldosteronism Estrogen insensitivity syndrome X-linked adrenal hypoplasia congenita MODY 1 Familial partial lipodystrophy 3 SF1 XY gonadal dysgenesis
2.2	* Barakat syndrome Tricho–rhino–phalangeal syndrome
2.3	* Greig cephalopolysyndactyly syndrome/Pallister–Hall syndrome Denys–Drash syndrome Duane-radial ray syndrome MODY 7 MRX 89 Townes–Brocks syndrome Acrocallosal syndrome Myotonic dystrophy 2
2.5	* Autoimmune polyendocrine syndrome type 1

(3) Helix-turn-helix domains

3.1	* ARX Ohtahara syndrome Lissencephaly X2 MNX1 Currarino syndrome HOXD13 SPD1 synpolydactyly PDX1 MODY 4 LMX1B Nail–patella syndrome MSX1 Tooth and nail syndrome OFC5 PITX2 Axenfeld syndrome 1 POU4F3 DFNA15 POU3F4 DFNX2 ZEB1 Posterior polymorphous corneal dystrophy Fuchs' dystrophy 3 ZEB2 Mowat–Wilson syndrome
3.2	* PAX2 Papillorenal syndrome PAX3 Waardenburg syndrome 1&3 PAX4 MODY 9 PAX6 Gillespie syndrome Coloboma of optic nerve PAX8 Congenital hypothyroidism 2 PAX9 STHAG3
3.3	* FOXC1 Axenfeld syndrome 3 Iridogoniodysgenesis, dominant type FOXC2 Lymphedema–distichiasis syndrome FOXE1 Bamforth–Lazarus syndrome FOXE3 Anterior segment mesenchymal dysgenesis FOXF1 ACD/MPV FOXI1 Enlarged vestibular aqueduct FOXL2 Premature ovarian failure 3 FOXP3 IPEX
3.5	* IRF6 Van der Woude syndrome Popliteal pterygium syndrome

(4) β-Scaffold factors
with minor groove contacts

4.2	* Hyperimmunoglobulin E syndrome
4.3	* Holt–Oram syndrome Li–Fraumeni syndrome Ulnar–mammary syndrome
4.7	* Campomelic dysplasia MODY 3 MODY 5 SF1 SRY XY gonadal dysgenesis Premature ovarian failure 7 SOX10 Waardenburg syndrome 4c Yemenite deaf-blind hypopigmentation syndrome
4.11	* Cleidocranial dysostosis

(0) Other transcription factors

0.6	* Kabuki syndrome

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