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Malignant atrophic papulosis

General Information (adopted from Orphanet):

Synonyms, Signs:	PAPULOSIS, MALIGNANT ATROPHIC Köhlmeier-Degos disease degos disease Papulosis atrophican maligna Köhlmeier-Degos-Delort-Tricort syndrome
Number of Symptoms	45
OrphanetNr:	679
OMIM Id:	602248
ICD-10:	I77.8
UMLs:	C0221011
MeSH:	D054853
MedDRA:	10064281
Snomed:	400171002

Prevalence, inheritance and age of onset:

Prevalence:	> 200 cases [Orphanet]
Inheritance:	Autosomal dominant [Orphanet]
Age of onset:	Adult [Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases:

Genetic porokeratosis
-Rare genetic disease
Porokeratosis
-Rare skin disease

Symptom Information: Sort by abundance

	Symptom Information	Symptom	Abundance	Pubmed	Source	DB Freq
1	(HPO:0000079)	Abnormality of the urinary system	Occasional [Orphanet]			88 / 7739
2	(HPO:0000651)	Diplopia	Occasional [Orphanet]			37 / 7739
3	(HPO:0000518)	Cataract	Occasional [Orphanet]			454 / 7739
4	(HPO:0000502)	Abnormality of the conjunctiva				6 / 7739
5	(HPO:0100576)	Amaurosis fugax	Occasional [Orphanet]			13 / 7739
6	(HPO:0000508)	Ptosis	Occasional [Orphanet]			459 / 7739
7	(HPO:0006824)	Cranial nerve paralysis	Occasional [Orphanet]			81 / 7739
8	(HPO:0001250)	Seizures	Occasional [Orphanet]			1245 / 7739
9	(HPO:0002141)	Gait imbalance	Occasional [Orphanet]			55 / 7739
10	(HPO:0009830)	Peripheral neuropathy	Occasional [Orphanet]			206 / 7739
11	(HPO:0002315)	Headache	Occasional [Orphanet]			175 / 7739
12	(HPO:0000763)	Sensory neuropathy	Occasional [Orphanet]			78 / 7739
13	(HPO:0100749)	Chest pain	Occasional [Orphanet]			92 / 7739
14	(HPO:0002017)	Nausea and vomiting	Frequent [Orphanet]			134 / 7739
15	(HPO:0002242)	Abnormality of the intestine	Frequent [Orphanet]			42 / 7739
16	(HPO:0002239)	Gastrointestinal hemorrhage	Frequent [Orphanet]			97 / 7739
17	(HPO:0005244)	Gastrointestinal infarctions	Frequent [Orphanet]			14 / 7739
18	(HPO:0002027)	Abdominal pain	Frequent [Orphanet]			184 / 7739
19	(HPO:0002024)	Malabsorption	Frequent [Orphanet]			142 / 7739
20	(HPO:0100592)	Peritoneal abscess	Occasional [Orphanet]			10 / 7739
21	(HPO:0100819)	Intestinal fistula	Occasional [Orphanet]			3 / 7739
22	(HPO:0004325)	Decreased body weight	Frequent [Orphanet]			492 / 7739
23	(HPO:0200034)	Papule		19249895	IBIS	12 / 7739
24	(HPO:0008065)	Aplasia/Hypoplasia of the skin	Very frequent [Orphanet]			81 / 7739
25	(HPO:0100585)	Telangiectasia of the skin	Very frequent [Orphanet]			66 / 7739
26	(HPO:0001297)	Stroke		19249895	IBIS	44 / 7739
27	(HPO:0012089)	Arteritis	Occasional [Orphanet]			40 / 7739
28	(HPO:0002563)	Constrictive pericarditis				3 / 7739
29	(HPO:0001637)	Abnormality of the myocardium	Occasional [Orphanet]			76 / 7739
30	(HPO:0001697)	Abnormality of the pericardium	Occasional [Orphanet]			52 / 7739
31	(HPO:0001677)	Coronary artery disease	Occasional [Orphanet]			58 / 7739
32	(HPO:0002140)	Ischemic stroke	Occasional [Orphanet]			70 / 7739
33	(HPO:0004420)	Arterial thrombosis	Occasional [Orphanet]			20 / 7739
34	(HPO:0002103)	Abnormality of the pleura	Occasional [Orphanet]			58 / 7739
35	(HPO:0002093)	Respiratory insufficiency	Occasional [Orphanet]			410 / 7739
36	(HPO:0002202)	Pleural effusion				22 / 7739
37	(HPO:0001324)	Muscle weakness	Frequent [Orphanet]			859 / 7739
38	(HPO:0000006)	Autosomal dominant inheritance				2518 / 7739
39	(OMIM)	CNS infarctions				1 / 7739
40	(HPO:0030350)	Erythematous papule	Very frequent [Orphanet]			123 / 7739
41	(OMIM)	Avascular patches on conjunctiva and other eye regions				1 / 7739
42	(OMIM)	Multiple asymptomatic papules with atrophic white scar-like centers surrounded by telangiectatic borders				1 / 7739
43	(HPO:0001522)	Death in infancy	Occasional [Orphanet]			275 / 7739
44	(HPO:0012795)	Abnormality of the optic disc	Occasional [Orphanet]			187 / 7739
45	(OMIM)	Wedge-shaped necrosis from epidermis through dermis				1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol	Variation	Clinical significance	Reference

Additional Information:

Clinical Description OMIM

Malignant atrophic papulosis is a rare multisystem vasculopathy that affects the skin, gastrointestinal tract, and central nervous system. This condition was first described by Degos et al. (1942). Katz et al. (1997) noted that the disorder usually occurs ... Malignant atrophic papulosis is a rare multisystem vasculopathy that affects the skin, gastrointestinal tract, and central nervous system. This condition was first described by Degos et al. (1942). Katz et al. (1997) noted that the disorder usually occurs in young adults, and affected men are said to outnumber women 3 to 1. The most common ocular manifestation is that of avascular patches on the conjunctiva, although the sclera, episclera, retina, choroid, and optic nerve may also be involved. The histologic appearance is typically characterized by a wedge-shaped area of necrosis from the epidermis through the dermis. Characteristic skin lesions are multiple asymptomatic papules with an atrophic white scarlike center surrounded by a telangiectatic border. Within weeks to years, most patients develop infarctions, mainly in the gastrointestinal and nervous systems. Systemic involvement portends a fatal outcome. There have, however, been reports of cases with only cutaneous manifestations and a favorable prognosis. The pathogenesis of Degos disease is unclear. Three main theories have been proposed: viral, autoimmune, and abnormality in coagulation. Hall-Smith (1969) described malignant atrophic papulosis, which he referred to as a cutaneovisceral disorder, in mother and son. The 16-year-old son had a severe systemic disorder associated with profuse eruption of varioliform lesions with a sharply defined pink halo. He died 7 months after onset of the illness. At autopsy, ulcerated lesions in the intestine, similar to those seen on the skin, and associated with enlargement of the regional lymph nodes, were found. The mother was more mildly affected. Newton and Black (1984) described the disorder in father and son. At the time of report, both showed only cutaneous manifestations of the disorder. Katz et al. (1997) found reports of 6 families, with 6 affected members in 1 family (Kisch and Bruynzeel, 1984) and 5 in another family (Beljaards et al., 1988). Katz et al. (1997) described a family with 6 affected members distributed through 3 generations. Their proposita was a 14-year-old girl with a 1-year history of numerous asymptomatic skin lesions on her trunk and limbs. Her mother, maternal grandmother, 2 maternal great aunts, and a maternal great uncle had had similar skin lesions. The maternal great uncle had been reported by Roenigk and Farmer (1968). At age 33, the patient first reported generalized skin lesions that subsequently coalesced and reached up to 20 mm in size. Five years later he experienced bilateral pleural effusions and constrictive pericarditis. Two years later, bilateral pleural effusions recurred with subsequent gastrointestinal bleeding. During an exploratory laparotomy, diffuse infarctions similar to those in the skin were seen throughout the gastrointestinal tract. He died of gastrointestinal hemorrhage 7 years after first noting skin lesions. The patient's grandmother and mother were alive and well at the time of the Katz et al. (1997) report, with only skin lesions that originated in young adulthood. The maternal grandmother had normal screening endoscopic and colonoscopic examinations, as well as a normal evaluation of coagulation.

Symptoms & Signs

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