Grand Rounds

Dermal swellings, joint contractures but no gingival hypertrophy


Ira Shah
Medical Sciences Department, Pediatric Oncall, Mumbai, India.

Address for Correspondence: Dr Ira Shah, 1, B Saguna, 271, B St Francis Road, Vile Parle {W}, Mumbai 400056.


Clinical Problem:
An 18 month old girl born of third degree consanguineous marriage presented with gradual restriction of movements in both the limbs for 6 months. Patient had flexion contractures of both ankles, knees, hips, elbows and limitation of movements of the spine. Pink confluent papules were present on both the ears. Bilateral parietal non-tender fluctuant swellings were seen over the scalp, which were non-transilluminant and progressively increasing in size {Fig 1}. Patient had a mental delay with social quotient of 33. There was no gingival hypertrophy. Skeletal radiography showed joint contractures without any lytic or sclerotic lesion. CT scan of brain revealed soft tissue swelling over both parietal bones. {Fig 2} Histologic examination of skin biopsy of the parietal mass by light microscopy showed minimal hyperkeratosis with entire dermis showing eosinophilic homogenous ground substance with numerous fibroblasts with pericellular halo {Fig 3}.

What is the diagnosis_?


Previous Grand Rounds View All

N
Neonatal cholestasis in an infant with Rh incompatibility
Ira Shah
A 1 ½ months old boy was referred for jaundice with clay stools since birth. There was history of Rh incompatibility which led to jaundice in neonatal period that required phototherapy and exchange tr....
R
Recent Conversion of Tuberculin Skin Test
Ira Shah
A 5 year old girl weighing 14kgs was referred in view of positive Tuberculin skin test {TST} {15mm by 2 TU} in November 2015. She had been tested as she had fever for 3 days but was currently asymptom....
C
Chronic diarrhea with fever
Ira Shah
A 1 years old boy born of non-consanguineous marriage presented with recurrent watery, foul smelling diarrhea and fever for 2 months. He was treated with antibiotics, steroids and lactose free milk. H....
M
Multiple ulcers in the terminal ileum
Ira Shah
A 16 years old boy presented with abdominal pain and intermittent low grade fever for 3-4 months. An ultrasound {USG} abdomen showed multiple lymphnodes with bowel wall thickening of ascending colon, ....
D
Duodenal and Jejunal Polyps in Extra-hepatic Portal Hypertension
Ira Shah
A 7 years old boy suffering from extrahepatic portal hypertension had an episode of malena. An upper GI endoscopy was done. There was presence of Grade 1-2 esophageal varices without any bleeding stig....
Disclaimer: The information given by www.pediatriconcall.com is provided by medical and paramedical & Health providers voluntarily for display & is meant only for informational purpose. The site does not guarantee the accuracy or authenticity of the information. Use of any information is solely at the user's own risk. The appearance of advertisement or product information in the various section in the website does not constitute an endorsement or approval by Pediatric Oncall of the quality or value of the said product or of claims made by its manufacturer.