[MIM 184 900]

(leathery skin syndrome, congenital fascial dystrophy, SSS acronym for Stiff Skin Syndrome)

Incidence < 1/106. In general sporadic but a few familial cases with autosomal dominant transmission of a mutation of the FBN1 gene (15q21.1) have been described. This gene codes for fibrillin and interferes with the expression of Tβ4 (transforming growth factor - β). Other mutations of this gene cause Marfan syndrome, geleophysical dysplasia and acromicric dysplasia. 

It present as a progressive, non-inflammatory, fibrosis of some areas of subcutaneous tissue appearing in childhood: these areas have a stone-like consistency and are covered with wrinkled skin (from which the name 'parcheminé' in french) or more often, hypertrichosis.

Based on the mean age of appearance and the distribution of the lesions, there are:

-         a generalized form: mean age of onset: 1.6 year of age; slowly progressive condition, characterized by very hard skin firmly attached  to the underlying tissues, mild hypertrichosis and hyperpigmentation in the affected skin areas (especially dorso-lumbar), as well as a limitation of the joint mobility (mainly affecting the large joints and girdles) and flexion contractures. Lipodystrophy (subcutaneous fat loss) and skin nodules may be associated (mainly affecting distal interphalangeal joints), as well as diffuse entrapment neuropathy, scoliosis, tiptoe walking and a narrow thorax. Restrictive pulmonary syndrome, short stature and growth retardation are also observed.

-         a segmental form: mean age of onset around 4.1 year of age; unilateral or symmetric involvement without limitation of joint mobility.

Histology: thick collagen bundles  which replace certain parts of the subcutaneous fat; large deposits of mucin in the connective tissue; the elastic fibers are preserved but stretched and thickened; healthy adipose tissue areas are surrounded by bundles of collagen.

Treatments:

-        PUVA (Psoralen and UltraViolet A) therapy

-        trials of mycophenolate mofetil (immunosuppression) in localized forms.

Differential diagnosis: sclerodermia, Morphea

Anesthetic implications: 

likely difficult mask ventilation and intubation (temporomandibular joint involvement); a case has been reported where curarization worsened the difficulty of mask ventilation; restrictive syndrome; short stature; in case of periarticular involvement, the patient's positioning may be difficult. Increased risk of nerve compression.

References : 

• Myers KL, Mir A, Schaffer JV, Meehan SA, Orlow SJ, Brinster NK. 
  Segmental stiff skin syndrome: a distinct clinical entity. 
  J Am Acad Dermatol 2016; 75: 163-8
• Liu T, McCalmont TH, Frieden IJ, Williams ML, Connolly K, Gilliam AE.
  The stiff skin syndrome: case series, differential diagnosis of the stiff skin phenotype, and review of the literature.
  Arch Dermatol 2006; 144: 1351-9
• Kiss EE, Alex G, Chandran N, Olomu P.
  Anesthetic implications of a pediatric patient with stiff skin syndrome : a case report.
  Pediatr Anesth 2020 ; 30 :1149-51.

Updated: October 2020