Journal of Orthopedic Research and Therapy (ISSN: 2575-8241)


Familial Juvenile Scleroderma and Mucolipidosis Type III: Causal Link or Simple Coincidence?

Loulouga Badinga Luc Pascal Christian1,2*, Bentahila Abdelilah1,2, Chkirate Bouchra1,2 

1Pediatric Service IV, Children's Hospital, Ibn Sina Hospital center, Rabat Morocco

2Faculty of Medicine and Pharmacy, Mohamed V-Souissi University, Rabat, Morocco 

*Corresponding author: Loulouga Badinga Christian Luc Pascal, Pediatric Service IV, Children's Hospital, Hospital Ibn Sina, Rabat, Morocco. Tel: + 212618360145; Email: 

Received Date: 16 July, 2018; Accepted Date: 30 July, 2018; Published Date: 02 August, 2018

 1.            Abstract 

Juvenile scleroderma is an autoimmune disease that is part of connective tissue disease characterized by a chronic connective tissue disorder that causes stiffening of the skin. Its etiology remains mysterious but probably multifactorial involving immune, vascular, cellular and genetic phenomena. Rare in children, even rarer cases are rarely reported in the literature. Among these, identified cases: Morphea in siblings; two different forms in the same family; association with another disease of the system; association with some incomplete functional deficiencies of the defense system including the complement. There is no specific treatment. The aim of this work is to describe the first Moroccan observation of familial juvenile morphea coexisting with a mucolipidosis type III. These are three children of five siblings from a non-consanguineous marriage, the parents and the two other brothers are apparently healthy. They presented clinically a morphology of topography and almost identical progression, a lameness in walking and an osteotendinous retraction of the wrists, metacarpophalangeal joints and inter-phalangeal; biologically inflammatory syndrome and anti-Scl 70 positive antibodies; histologically a cutaneous biopsy suggestive of scleroderma and genetically two heterozygous mutations composed of the GNPTG gene (c.196C> T in exon 4 carried by the mother and c.635_636delTT in exon 9 worn by the father) whose enzymatic activity lysosomal serum resulted in gamma Mucolipidosis type III. The evolution was favorable under prednisone (1 mg / kg / day) with progressive degeneration and adjuvant treatment. Thus, the heterogeneous clinical presentation associated with histological and genetic studies would lead to a coexistence of the two pathologies. 

2.            Keywords: Juvenile Family Morphea; Juvenile Scleroderma