eMedicine Specialties > Dermatology > Diseases of the Vessels

Degos Disease

Author: Noah S Scheinfeld, MD, JD, FAAD, Assistant Clinical Professor, Department of Dermatology, Columbia University; Consulting Staff, Department of Dermatology, New York Medical College-Metropolitan Hospital; Private Practice
Contributor Information and Disclosures

Updated: Feb 14, 2008

Introduction

Background

In 1941, in an article entitled "Multiple Hautrekrosen bei Thromboangiitis obliterans," Kohlmeier described a case of a disease that has now been termed malignant atrophic papulosis (MAP) or Degos disease (DD). Degos recognized it as a distinct clinical entity in 1942.

For a gastroenterological perspective on MAP, see Malignant Atrophic Papulosis.

Broadly speaking, DD is a vasculopathy or an endovasculitis. It is an occlusive arteriopathy involving small-caliber vessels. Specifically, it is a progressive, small- and medium-size arterial occluding disease, leading to tissue infarction and initially involving the skin. DD occurs both in a limited benign, cutaneous form and in a lethal multiorgan, systemic variant.

In the skin, DD initially manifests with erythematous, pink or red papules. These papules heal to leave scars with pathognomonic, central, porcelain white atrophic centers. These papules usually have a peripheral telangiectatic rim.

In the systemic variant of DD, the gastrointestinal tract is affected in 50% of cases. Intestinal perforation is the most severe complication and the most common cause of death in systemic DD. Other systems can also be involved; approximately 20% of cases of systemic DD involve the CNS. Systemic manifestations usually develop from weeks to years after the onset of skin lesions, or, in rare instances, they may precede the skin lesions.

Because of the broad overlap in clinical and histological findings, High et al¹ contended in 2004 that DD may not be a specific entity but, rather, may represent a common end point to a variety of vascular insults, many of which have not been fully elucidated. In 2003, Ball et al² proposed that DD is just a variant of lupus.

In 2005, the author adduced strong evidence that DD is a distinct condition because, unlike lupus, (1) it does not involve the face, (2) it does not respond to therapies such as corticosteroids that at least abate lupus, (3) it does not manifest with photosensitivity, (4) viral inclusions are present in some cells in patients with DD, and (5) systemic DD is universally fatal, usually within 1-2 years, whereas lupus (even if severe) takes years to be fatal.³

Wilson et al⁴  reiterated that MAP/DD has both a (1) limited, cutaneous type and a (2) systemic, fatal variant.

Pathophysiology

The etiology and the pathophysiology of DD are unknown. Some have classified DD as a vasculitis, a mucinosis, or a thrombotic disorder. In most cases, no circulating immune complexes, antiendothelial cell antibodies, or anticardiolipin antibodies are isolated. Although, in some cases, antiphospholipid antibodies of uncertain significance are identified.

Some authorities suggest that DD involves a primary endothelial cell defect with secondary thrombosis, leading to infarctive changes. No evidence exists for antibodies to components of endothelial cells. Medications and toxic chemicals do not appear to induce DD.

The actual physical damage to blood vessels involves, at least in part, impaired fibrinolytic activity and alterations in platelet function. Classifying DD as a vasculitis may not be appropriate because inflammation of the vessel walls is minimal and because immune complexes have not been found in the vessel walls.

Three possible mechanisms for this pathology have been suggested: disturbance in immunity, viral infection, and abnormality in the clotting system of blood.

In familial cases, an autosomal dominant mode of inheritance has been suggested, but this is uncertain.

In molecular analysis of cases of DD with only cutaneous lesions, no paramyxovirus was identified by polymerase chain reaction.

Frequency

International

DD is rare. About 200 cases have been reported in the world literature.

Mortality/Morbidity

Systemic DD is frequently fatal within 2-3 years from the onset of systemic involvement. The cause of death is usually intestinal perforation. However, the range of survival time from time of diagnosis varies from less than 1 year to more than 12 years. Other causes of death include bowel infarction, pleuropericardial pathology, and neurologic infarction and hemorrhage.

• Wilson et al⁴ reviewed the 24 reported instances of MAP malignant/systemic type and benign/purely cutaneous type in pediatric patients. They found that 14 cases (58%) were fatal. Patients died an average of 3.6 years after the diagnosis of MAP.
• In 1 patient, in whom skin and abdominal symptoms occurred at the same time, death from bowel hemorrhage followed in 6 months.
• In 1996, Subbiah et al⁵ described the neurologic features of a series of 15 patients with DD at the Mayo Clinic. Each patient had the white papules that are the hallmark of DD (biopsy proven). Long-term follow-up revealed 6 patients were dead. Nine patients with skin lesions only were nearly asymptomatic. Immunosuppressive and antiplatelet agents did not halt disease progression. CNS infarcts and hemorrhages with intravascular thrombi and without evidence of vasculitis were notable findings at autopsy.
• Notash et al⁶  reported a 48-year-old Iranian man with lethal systemic DD.

Race

Some state that DD generally occurs in white young adults. However, DD is reported in blacks in Africa, Arabs in Jordan,⁷ Asians in Japan, and elsewhere. Any racial link is uncertain.

Sex

In 1997, Katz et al⁸ noted that the disorder usually occurs in young adults, and the male-to-female ratio is approximately 3:1.

Wilson et al⁴ reviewed benign cutaneous MAP in 34 men and women (30 adults and 4 kids) and noted that benign MAP is more commonly reported in women, at a female-to-male ratio of 3:1.

Age

All ages are affected. The fatal systemic variant of DD can occur in children. In 1999, Lankisch et al⁹ described a 16-year-old white adolescent girl with acute abdominal pain due to visceral involvement of DD that required extensive small-bowel resection. The skin manifestations had been present for 2 years before the correct diagnosis was made. She died as a result of CNS involvement from DD.

Jalil et al¹⁰ described a case in a 2-year-old child who presented with chronic abdominal pain of uncertain origin. 

The benign cutaneous variant of DD can occur in adults. Wilson et al⁴ looked at 34 patients with benign cutaneous MAP and found their average age was 37.6 years. In 1998, Farrell et al¹¹ described a case of a 44-year-old woman with DD and a lupus anticoagulant who, 4 years later, was alive and without systemic involvement. Electron microscopy of the white papules demonstrated interwoven tubular structures within the endothelial cells. This was consonant with reports in previous studies of DD. Farrell et al¹¹ thought that aspirin (300 mg/d) kept her cutaneous DD in check. In 1998, Requena et al¹² described a 58-year-old homosexual man with AIDS who developed typical cutaneous lesions of MAP, with no visceral involvement detected 2 years after the diagnosis of DD.

DD can occur in infants. DD has been reported in a 7-month-old girl who showed spontaneous aggregation of platelets. A good clinical response in this patient was obtained by treatment with aspirin and dipyridamole.¹³

Clinical

History

In most cases, the first manifestation of DD is a rash. Some have stated that the disease involves the skin as the sole clinical manifestation in 37% of patients. The gastrointestinal tract is involved in about 50% of patients.

• Patients may have a family history of DD. In 1997, Katz et al⁸ described a familial variant of DD.
• DD associated with a spontaneous cure of diabetes has been reported.¹⁴
• Patients with DD may have a history of a variety of abdominal complaints, manifesting with abdominal pain, abdominal distention, cramps, nausea, vomiting, diarrhea, or constipation. Sometimes, patients may state that they experience weakness, fatigue, or weight loss, or symptoms of malabsorption.
• DD has been associated with systemic diseases. DD has occurred in patients with rheumatoid arthritis, HIV infection, and antiphospholipid antibodies and antiphospholipid syndrome.¹⁵
• Patients may have a history of a variety of neurologic complaints that include facial and acral paresthesia, headaches, dizziness, seizures, hemiplegia, aphasia, paraplegia, and gaze palsy.
• Patients may have a variety of eye problems, including diplopia, ptosis, and visual-field defects.
• Patients may experience weakness, shortness of breath, and chest pain.
• Inflammatory linear vasculopathy mimicking DD has been described. This is important to note because DD mimicking vasculitis has been described.
• Saglik et al¹⁶  noted a case of MAP with endocardial involvement and positive anticardiolipin antibodies.

Physical

The main physical finding of DD is a skin rash that manifests with porcelain white scars. DD also affects the eyes, the intestines, the brain, and other organs with a variety of physical findings.

• The most visible manifestation of DD is in the skin.
• DD manifests with (in most cases) multiple, small, red, raised papules that are 2-5 mm 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 with a rim of telangiectases. See Media Files 1-2.
• The papules predominantly occur on the trunk and the arms.
• Degos papules commonly manifest on the penis.⁶
• Degos more rarely occurs on the palms and soles.⁶
• One case has noted that Degos occurred on the scalp.
• No cases known to the author note DD-type papules on the face.
• In a 17-month-old child, progressive involvement of the fingers and the toes with torpid ulcers and apical necrotic amputations has been reported.
• Peristomal lesions have been reported.
• The rash of DD develops slowly and is usually mostly asymptomatic, but it may be accompanied by a slight burning sensation. The rash can arise anywhere except on the soles, the palms, and the face. The rash starts as pink or red papules that are 2-15 mm in diameter. The papules evolve into atrophic scars that are porcelain white. Sometimes, abdominal symptoms precede the rash, but this finding is uncommon.¹⁷
• A variety of ocular findings occur in DD.
  • Posterior subcapsular cataracts,¹⁸ visual field defects, ptosis, third cranial nerve palsies, blepharoptosis, and optic atrophy may be associated with DD. Optical neuritis, papilledema, and scleral plaques can be present.¹⁹
  • In 1986, Sibillat et al²⁰ reported that ophthalmologic symptoms were present in 35 of 105 extant reports of DD. DD manifested in the eye tissues, usually in the conjunctiva. The sclera, the episclera, the retina, the choroid, the optic nerve, and/or the neuro-ophthalmologic apparatus demonstrated damage consonant with DD.
• Constrictive pericarditis has been reported in DD. This condition might be induced by pericardial vasculitis, thereby causing the left ventricular wall motion abnormality.
• The lungs can be affected in DD. Pulmonary manifestations include pleuritis and bilateral pleural effusions.
• The liver and the kidneys may be involved and associated with a vasculitis.
• The brain and the nerves can be affected in DD.
  • In 1 patient with DD, the neurologic examination revealed a right-hemianopsia, paraparesis (with a sensory level at Th12), and a neurogenic bladder. In another patient, an ascending thoracic myelopathy was present.
  • In 1996, at the Mayo Clinic, Subbiah et al⁵ described a series of 15 patients. Ten patients developed neurologic manifestations. These findings included fatal hemorrhagic or ischemic strokes in 5, disabling polyradiculoneuropathy in 1, and nonspecific neurologic symptoms without objective findings in 4.
  • Other manifestations include strokes, headaches, epilepsy, or nonspecific neurologic symptoms (eg, memory loss, altered sensation).
• Patients experience abdominal pain. Gastrointestinal bleeding can result in vomiting blood or passing blood with bowel movements. Patients with DD may have enterocutaneous fistulae.

Causes

The cause of DD is unknown. Suggested causes include a virus, an immune defect, or a clotting defect.

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