Disease Information for Degos' acanthomatosis syndrome

Clinical Manifestations
Signs & Symptoms
Lesion precede intestinal complications/years
Lesions on trunk/upper extremities
Papular Rash
Porcelain red-ringed atrophic spots
Rash/Characteristic pattern/distribution
Skin lesions
Abdominal Pain
Abdominal Pain in Children
Apparent bowel obstruction syndrome
Weight loss in Children
Pathognomonic/diagnostic lesions
Weight Loss
Clinical Presentation & Variations
Presentation/Young male porcelain spots acute abdomen
Disease Progression
Course/Chronic disorder
Course/Chronic only
Course/Progressive/slowly chronic illness
Demographics & Risk Factors
Established Disease Population
Patient/Degos cutaneointestinal/atrophic papulosis
Population Group
Population/Pediatrics population
Sex & Age Groups
Population/Adult ('twenties')
Population/Child-Infant Only
Population/Man patient
Diagnostic Test Results
BX/Occlusive arteriopathy/chronic
BX/Small arteries fibrosing occlusion/no inflammation
BX/Skin biopsy upper dermal mucin deposits
BX/Skin biopsy/Small vessel vasculitis
CT Scan
CT/Enterography Abnormal
X-RAY With contrast
SBS/Abnormal Small Bowel Series
Associated Diseases & Rule outs
Associated Disease & Complications
Acanthosis nigricans
Cerebral vascular accident
Degos' acanthomatosis syndrome
Mesenteric vascular/artery insufficiency
Mesentery hemorrhage
Perforation GI tract
Disease Mechanism & Classification
CLASS/Pediatric disorders (ex)
CLASS/Primary organ/system disorder (ex)
CLASS/Cardiovascular (category)
CLASS/Small artery disorder
CLASS/Vascular Small Vessel Disorder
CLASS/Dermatologic/Subcutaneous (category)
CLASS/Small intestine disorder (ex)
Pathophysiology/Gene locus Chromosome X.
Pathophysiology/Genomic indentifiers (polymorphism/snip/mutations)
Pathophysiology/Occlusive low-grade vasculitis gut/skin
Pathophysiology/Small Vessel Vasculitis
Pathophysiology/Ischemic bowel process
PROCESS/Eponymic (category)
PROCESS/Hereditofamilial (category)
PROCESS/Hereditofamilial variant/pedigrees reported (ex)
PROCESS/Idiopathic/unclassified/unknown (category)
PROCESS/INCIDENCE/Esoteric disease (example)
PROCESS/INCIDENCE/Extremely rare disease
PROCESS/Neoplastic (category)
PROCESS/Sex-linked (X-linked) recessive inheritance (ex)
Degos' acanthomatosis syndrome, Synonym/Cutaneointestinal syndrome, Synonym/Degos syndrome, Synonym/Degos-Kohlmeier disease, Synonym/Koehlmeier-Degos syndrome, Synonym/Malignant atrophic papulosis (Degos)
Drug Therapy - Indication
RX/No effective/definitive treatment yet available
Other Treatments
TX/Expectant/supportive treatment.

Degos Disease; Degos Syndrome; Degos-Kohlmeier Disease;

Kohlmeier-Degos Disease; Malignant Atrophic Papulosis

Degos disease is a rare systemic disorder that affects small and medium sized arteries, causing them to become blocked (occlusive arteriopathy); Degos disease usually progresses through two stages: During the first stage, characteristic skin lesions appear that may last for a period of time ranging from weeks to years; The second stage of Degos disease is most frequently characterized by lesions in the small intestine, but other organs may also be affected; Major symptoms may include abdominal pain, diarrhea, and/or weight loss; Intestinal lesions may break through the wall of the bowel (perforation), a potentially life-threatening complication; The exact cause of Degos disease is unknown; ----------[NORD 2005]----------------------------------

Degos disease, also known as malignant atrophic papulosis is a rare disorder. It generally occurs in young Caucasian adults; Degos disease affects the lining of the small blood vessels resulting in occlusion (blockage); The blood vessels affected include those supplying the skin, gastrointestinal tract and central nervous system;

Skin lesions are the characteristic feature of Degos disease. The lesions are usually multiple and occur predominantly on the trunk and arms; They usually start as small red raised spots of 2-5mm in diameter; After a few days they enlarge and develop a central white spot that is depressed in comparison to the red skin around it; They heal leaving depressed porcelain-white scars;

Gastrointestinal complications result from lack of blood supply to the lining of the gut and may lead to serious complications like perforation of the bowel; The usual symptoms are sudden onset of abdominal pain or gastrointestinal bleeding (vomiting blood or passing blood with the bowel motion);Involvement of the nervous system can lead to strokes, headaches, epilepsy or non-specific neurological symptoms like memory loss or altered sensation;

Other organs can also be involved such as eyes, kidneys, heart and liver. Prognosis: Degos disease is generally regarded as serious because it leads to involvement of multiple organs resulting in death within 2-3 years; But in some cases it remains limited to skin involvement and appears benign (harmless);

[DermNet NZ 2005]---------------------------------------------


External Links Related to Degos' acanthomatosis syndrome
PubMed (National Library of Medicine)
NGC (National Guideline Clearinghouse)
Medscape (eMedicine)
Harrison's Online (accessmedicine)
NEJM (The New England Journal of Medicine)