has material basis in germline mutation in FBN1 stiff skin syndrome https://rarediseases.info.nih.gov/diseases/5025/stiff-skin-syndrome https://www.malacards.org/card/stiff_skin_syndrome A rare syndrome characterized by hard, thick skin, usually on the entire body. The thickening of the skin can limit joint mobility and causes joints to be stuck in a bent position (flexion contractures). The onset of signs and symptoms can range from presenting at birth through childhood. Other signs and symptoms may include excessive hair growth (hypertrichosis), loss of body fat (lipodystrophy), scoliosis, muscle weakness, slow growth, and short stature. Weakness or paralysis of the eye muscles have also been reported. Stiff skin syndrome is caused by mutations (changes) in the FBN1 gene and is inherited in an autosomal dominant manner. Diagnosis is based on a clinical evaluation that is consistent with stiff skin syndrome, and the diagnosis can be confirmed with genetic testing. Treatment is based on the symptoms of each individual and may include physical therapy. Orphanet:2833 DOID:0111561 icd11.foundation:642409035 stiff skin syndrome SSKS OMIM:184900 GARD:0005025 SCTID:765187004 MEDGEN:348877 MONDO:0008492 NCIT:C118636 UMLS:C1861456 MESH:C566112 hereditary skin disorder