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CASE REPORT
Year : 2018  |  Volume : 19  |  Issue : 1  |  Page : 80-82

Dego's disease in a female child with Anti-Scl-70 antibody positivity


Department of Dermatology, Venereology and Leprology, Gujarat Cancer Society Medical College, Hospital and Research Centre, Ahmedabad, Gujarat, India

Date of Web Publication28-Dec-2017

Correspondence Address:
Dr. Jigna Krunal Padhiyar
Room No-35, Department of DVL, Gujarat Cancer Society Medical College, Hospital and Research Centre, Opposite DRM Office, Near Chamunda Bridge, Naroda Road, Ahmedabad - 380 025, Gujarat
India
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/ijpd.IJPD_84_17

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  Abstract 

Degos' disease (DD) also known as malignant atrophic papulosis is considered to be a disorder of abnormal coagulation with obliterative arteritis. Its association has been described with connective tissue disorders, human immunodeficiency virus infection (HIV) and wegener's granulomatosis. Gastrointestinal, neurological, ocular, cardiovascular, and pulmonary involvement can also occur in DD. Benign version of DD with only cutaneous manifestations has been described. We are presenting a case of 7-year-old female with multiple irregular-shaped crusted tender lesions with porcelain white scars of healed lesions mainly over the trunk and upper limb and few lesions involving face and legs for the last 6 months. There was a history of occasional headache. Other systemic examination by experts was within normal limit. On further investigation, antinuclear antibody, and anti-Scl-70 antibody were positive with histopathology suggestive of DD. The patient had reduced peak expiratory flaw rate (PEFR). The patient was given oral prednisolone without much improvement. With oral aspirin for a month, the patient had mild improvement. The patient is presently under follow-up for future systemic involvement and response to therapy. Anticipated mortality in DD is 50%–60%. Earlier diagnosis and proper management at such a younger age might benefit the patient; however, they need to be followed up for complications. DD is very rare and very few cases have been reported in children. Ours is unique with anti-Scl-70 antibody positivity.

Keywords: Anti-Scl-70, Degos' disease, female child, malignant atrophic papulosis, scleroderma


How to cite this article:
Padhiyar JK, Patel NH, Gajjar TP, Buch MD. Dego's disease in a female child with Anti-Scl-70 antibody positivity. Indian J Paediatr Dermatol 2018;19:80-2

How to cite this URL:
Padhiyar JK, Patel NH, Gajjar TP, Buch MD. Dego's disease in a female child with Anti-Scl-70 antibody positivity. Indian J Paediatr Dermatol [serial online] 2018 [cited 2019 Jul 22];19:80-2. Available from: http://www.ijpd.in/text.asp?2018/19/1/80/217487


  Introduction Top


Degos' disease (DD) also known as malignant atrophic papulosis is a vasculopathy affecting small- and medium-sized arteries due to unknown etiology. Proposed mechanisms for pathogenesis are abnormal coagulation, hyperthrombotic stage, abnormality in endothelial cells and complement-mediated injury leading to obliterative arteritis. Its association has been described with systemic lupus erythematosus, systemic sclerosis, and rheumatoid arthritis, dermatomyositis, human immunodeficiency virus infection (HIV), and Wegener's granulomatosis.[1],[2] It mainly affects age group of 20–40 years with male predominance with ratio of 2–3:1. Some familial cases have been reported. Clinically, it starts as pale-rose round edematous papules sometimes preceded by slight burning affecting trunk and limbs with sparing of face, palms, and soles with 30–40 active lesions at a time. This eventually progresses to ulceration followed by porcelain white scaring with peripheral livid red and telangiectatic rim.[1] Gastrointestinal, neurological, ocular, cardiovascular, and pulmonary involvement can also occur in DD, but usually, skin manifestations precede systemic involvement. Benign version of DD with only cutaneous manifestations has been described.

Drugs such as aspirin, antiplatelet drugs, and fibrinolytics, pentoxifylline, phenylbutazone, heparin, warfarin, dextrans, chloroquine, intravenous immunoglobulin, eculizumab, nicotine patches, treprostinil, and fibrinolytics are claimed to be effective in disease.


  Case Report Top


A 7-year-old female child presented to us with complaints of the skin ulcers involving mainly upper limb for the last six months. On examination, there were multiple bizarre-shaped crusted tender ulcers without surrounding erythematous rim with porcelain-white scars of healed lesions mainly over the upper limb with few over face [Figure 1] and lower limb and back with sparing of palms and soles. There were few mildly erythematous to skin-colored papules of irregular shape were present over the abdomen [Figure 1]. There was a history of occasional headache. Other systemic examination by experts was within normal limit. Patient had low Hb (11.7 gm/dl), raised total leukocyte count (19,500/cmm), and raised platelet count (6,23,000/cmm). On further investigation, antinuclear antibody (ANA) by enzyme-linked immunosorbent assay (ELISA) was 6.87 with positive index being >1.5 in our institute. ANA profile by immunoblot showed positivity for anti-Scl-70 antibody with titer being 74 U/mL with cutoff being >12 U/mL to be labeled as positive, but the patient did not have any cutaneous manifestations of scleroderma as well as Reynaud's phenomenon. Titer of anti-Scl-70 antibody was not repeated because of nonaffordability of our patient. The patient had reduced peak expiratory flaw rate. Patient being child and from rural area was unable to perform whole pulmonary function test.
Figure 1: (a-c) Multiple irregular-shaped crusted ulcer with porcelain white scars over the upper limbs and face (d) skin coloured to mildly erythematous papules over abdomen

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Bleeding time, clotting time, prothrombin time, activated partial thromboplastin time, plasma fibrinogen, creatine phosphokinase total, rheumatoid factor, C-reactive protein, cytoplasmic anti-neutrophil cytoplasmic antibody, perinuclear antineutrophilic cytoplasmic antibody, and anticardiolipin antibodies were within normal limits. HIV and serological test (rapid plasma regain) for syphilis were negative. Systemic involvement was ruled out by relevant investigations such as computed tomography scan of the brain and upper gastrointestinal scopy, split lamp examination, and fundoscopy for ocular involvement and echocardiography for cardiac involvement.

A biopsy was taken from both popular lesions over the abdomen and ulcerated lesion over the right arm. Histopathology from popular lesion showed orthokeratotic hyperkeratosis, mild epidermal atrophy, and predominantly lymphocytic infiltrate in papillary dermis and in superficial perivascular area [Figure 2]. Biopsy from an ulcerated lesion histopathologically showed mild orthokeratotic hyperkeratosis, epidermal atrophy, wedge-shaped pale hyalinized area of dermal necrosis, thrombosed capillaries with perivascular hyalinization with mild lymphocytic infiltrate [Figure 3].
Figure 2: Biopsy from popular lesion over the abdomen showing orthokeratotic hyperkeratosis, mild epidermal atrophy, and predominantly lymphocytic infiltrate

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Figure 3: Biopsy from ulcerated lesion over arm showing (a and b) epidermal atrophy with wedge shaped hyalinized area in dermis (c and d) epidermal atrophy with thrombosed capillaries with perivascular hyalinization

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The patient was given oral prednisolone 20 mg for 15 days without much improvement. With oral aspirin, 75 mg/day for a month patient had mild improvement. The patient is presently under follow-up for future systemic involvement and response to therapy.


  Discussion Top


DD mainly affects the age group of 20–40 years. It has been reported in children though only few cases have been described. Very few cases of DD have been reported from India.[3],[4],[5],[6]

Many cases have been described in association with systemic lupus erythematosus (SLE), or DD has been claimed to be a manifestation in spectrum of SLE, but very few cases have been reported in association with SS.[7] To the best of our knowledge, it has not been described in a child with anti-Scl-70 positivity. Hence, our case has unique association with anti-Scl-70 antibody positivity, and patient needs to be under further surveillance for the development of systemic scleroderma as well as for systemic involvement associated with DD. This may be association by chance but, the titer of anti-Scl antibody was quite high from cutoff margin, so we need to follow-up for further conclusion on its association with scleroderma. The patient does not fulfilled the Systemic Lupus Collaborating Clinics or the American College of Rheumatology criteria to be diagnosed as SLE, and no other antibodies were positive in ANA profile to comment on its association with SLE in this particular patient though ANA by ELISA was positive.

Increased C5b-9 deposition has been described in both DD and in scleroderma.[8] This may be the cause of small vessel obliterative vasculopathy – a shared feature in both diseases. Eculizumab – an antibody against C5 which has been found to decrease deposition of C5b-9- has been found to be effective in DD.[9] Treprostinil – a synthetic analog of prostacyclin used in pulmonary hypertension (which may be a feature of scleroderma) has also been found effective in the treatment of DD.[10] Hence, further research is needed to establish correlation between DD and systemic scleroderma and therapeutic guidelines for the two diseases.

Telangiectatic rim surrounding porcelain white scars or ulcers was absent in our patient. May be it was not appreciable because of patient's dark complexion. However, histopathology was very characteristic from both types of lesions. Hence, even in the absence of telangiectatic rim, one should keep DD in the differential diagnosis in the presence of other typical clinical features.

Declaration of patient consent

The authors certify that they have obtained all appropriate patient consent forms. In the form the patient(s) has/have given his/her/their consent for his/her/their images and other clinical information to be reported in the journal. The patients understand that their names and initials will not be published and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed.

Financial support and sponsorship

Nil.

Conflicts of interest

There are no conflicts of interest.

 
  References Top

1.
Cox NH, Piette WW. Purpura and microvascular occlusion. In: Burns T, Breathnach S, Cox N, Griffiths C, editors. Rook's Textbook of Dermatology. 8th ed. UK: Wiley Blackell; 2010. p. 49.45-49.46.  Back to cited text no. 1
    
2.
James WD, Berger TG, Elston DM, Neuhaus IM, editors. Cutaneous Vascular Diseases. In: Andrews' Diseases of the Skin: Clinical Dermatology. 12th ed. Philadelphia: Elsevier; 2016. p. 843-44.  Back to cited text no. 2
    
3.
Mittal RR, Bansal N, Seema. Malignant atrophic papulosis. Indian J Dermatol Venereol Leprol 1998;64:93-4.  Back to cited text no. 3
[PUBMED]  [Full text]  
4.
Thomas RK, Nithyanandam S, Rawoof BA, Rajendran SC. Malignant atrophic papulosis. Report of a case with multiple ophthalmic findings. Indian J Ophthalmol 2003;51:260-3.  Back to cited text no. 4
[PUBMED]  [Full text]  
5.
Ali YN, Hamed M, Azita N. Lethal systemic degos disease with prominent cardio-pulmonary involvement. Indian J Dermatol 2011;56:564-7.  Back to cited text no. 5
[PUBMED]  [Full text]  
6.
Premalatha S, Yesudian P, Janaki VR, Rao NR, Thambiah AS. Malignant atrophic papulosis (Degos' syndrome):First case report from India. Clin Exp Dermatol 1980;5:370-1.  Back to cited text no. 6
    
7.
Durie BG, Stroud JD, Kahn JA. Progressive systemic sclerosis with malignant atrophic papulosis. Arch Dermatol 1969;100:575-81.  Back to cited text no. 7
    
8.
Magro CM, Poe JC, Kim C, Shapiro L, Nuovo G, Crow MK, et al. Degos disease: A C5b-9/interferon-α-mediated endotheliopathy syndrome. Am J Clin Pathol 2011;135:599-610.  Back to cited text no. 8
    
9.
Magro CM, Wang X, Garrett-Bakelman F, Laurence J, Shapiro LS, DeSancho MT, et al. The effects of Eculizumab on the pathology of malignant atrophic papulosis. Orphanet J Rare Dis 2013;8:185.  Back to cited text no. 9
    
10.
Shapiro LS, Toledo-Garcia AE, Farrell JF. Effective treatment of malignant atrophic papulosis (Köhlmeier-degos disease) with Treprostinil – Early experience. Orphanet J Rare Dis 2013;8:52.  Back to cited text no. 10
    


    Figures

  [Figure 1], [Figure 2], [Figure 3]



 

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