Dr. Venumadhav, Dr.Suma balan(Paed Rheumato), Dr. C. Jayakumar
Department of Pediatrics, Amrita Institute of Medical Science,Kochi ,Kerala ,India
A 11 year old male child presented with dry cough, difficulty in swallowing food and intermittent episodes of vomiting for 2 months duration . Parents noticed thickening and tightening of skin over the arms, fingers since 1 month and colour change of fingers on exposure to cold. He had weight loss of 2 kgs over past 2 months. He is developmentally normal and immunised for age.
Examination and Investigations:
Child was thin built with shiny skin, Vitals were stable.
Physical examination revealed skin tightening over the forearms and legs, telangiectasia on the face, irregular ulcerations, and white calcific deposition on the fingers.
Blood investigations showed normal counts with an elevated erythrocyte sedimentation rate (ESR) of 55 mm.
Picture -Above images showing Calcinosis cutis, reduced oral aperture and telengectesia
Picture Telangiectasia
Differential Diagnosis
The differential diagnoses considered were Scleromyxoedema,
Limited systemic Sclerosis,
GERD.
Diagnosis,Treatment and Outcome
OGD Scopy done was normal.
ANA positive (4) with centromere pattern. USG Abdomen done was normal.
HRCT chest done honey combing in the upper lobe, suggestive of developing ILD.
In view of clinical findings like calcinosis cutis, raynauds phenomenon, esophagal dysmotility (clinically diaganosis as there is difficulty in swallowing ) sclerodactaly and telengectesia and positive Anti centromere Ab, child was diagnosed as limited systemic sclerosis- CREST Syndrome.
Child was started on Mycophenolate mofetil – 400mg/m2/day,Pantoprazole, Refresh eye drops.
Telangiectasia may be managed with camouflage techniques, pulse dye laser, and intense pulse light.
Calcinosis cutis therapy is guided the size of the calcium deposits.
Mouth augmentation and oral stretching exercises are recommended for patients with reduced oral aperture.
Raynaud’s phenomenon is treated with a combination of lifestyle modification and calcium channel blockers, such as amlodipine.
Discussion:
There are two forms of systemic sclerosis (SSc )diffuse and limited (formerly acrosclerosis). CREST syndrome is a subtype of limited SSc, characterized : calcinosis, Raynaud’s phenomenon, esophageal dysfunction, sclerodactyly, and telangiectasia. At least two of the preceding five features need to be present to be diagnosed as CREST syndrome
Biopsy of the skin reveals dermal fibrosis like the changes seen in the thickened skin of Systemic Sclerosis. Although the skin changes approximate the changes with Systemic Sclerosis,
Limited Scleroderma is not associated with some of the more serious pathology seen in Systemic Sclerosis.
Modified Rondan Skin score measures disease severity and mortality risk.
ADVICES1)Wear gloves, mittens, and layered clothing to protect against Raynaud’s and maintain warmth.
2)Opt for soft, moist foods, chew well, and eat small, frequent meals to ease swallowing and reduce esophageal discomfort.
3)Avoid spicy, fatty foods, chocolate, caffeine, and alcohol to manage acid reflux, and refrain from exercising around meal times.
4)Use skin moisturizers and a humidifier to soothe dry skin and alleviate breathing difficulties
take home message
Early recognition and appropriate management of CREST syndrome are crucial in improving the quality of life and preventing complications in affected individuals. Regular follow-up and adherence to advised lifestyle modifications are essential for optimal outcomes