[MIM 236 490]

Related syndrome: juvenile hyaline fibromatosis

Autosomal recessive transmission. Genetic fibromatosis characterized by skin thickening with hyperpigmentation and presence of whitish papules (mainly on the face), gingival hypertrophy, osteopenia and growth retardation, progressive joint contractures, severe chronic pain and the presence of a hyaline substance in many tissues (skin, muscles, heart, thyroid, gastrointestinal tract, spleen, adrenals, lymph nodes). The clinical picture is similar, in a more severe form, to juvenile hyaline fibromatosis. The responsible mutations are on the same locus 4p21 for the 2 conditions, but concern different genes: ANTRX2 gene (receptor 2 of the toxin of anthrax) for systemic hyalinosis and CMG2 gene (Capillary Morphogenesis Protein 2) for juvenile hyaline fibromatosis.

Anesthetic implications:

Difficult intubation: temporomandibular joint contracture, gingival hyperplasia, hyaline deposits in the trachea. Difficult venous access and positioning due to the joint stiffness. 

References : 

-        Pollard M, Ollite EM, Walker RWM.
The anesthetic management of a child with infantile systemic hyalinosis.
Pediatr Anesth 2008 ; 18 : 1123-4

-        Yoshikawa M, Shinomura T, Kishimoto K, Uga H.
Anesthetic management of an adult patient with hyaline fibromatosis syndrome undergoing laparoscopic colectomy: a case report.
A&A Practice; 2020; 14:87-89

-        Li Y-h, Wei C-j, Wang Z-c.
Long history of multiple painless scalp nodules in a middle-aged woman.
JAMA Dermatology 2023 ; 159 : 452-3

Updated: April 2023