Scleromyxedema A Presentation of this rare case and the problem we meet 2003/1/30 By R Liu Chih-Min

Introduction EPIDEMIOLOGY EPIDEMIOLOGY Scleromyxedema is an uncommon disease; approximately 114 cases have been reported in the Englishlanguage literature Scleromyxedema is an uncommon disease; approximately 114 cases have been reported in the Englishlanguage literature It typically affects middle-aged adults without sex predilection It typically affects middle-aged adults without sex predilection Idiopathic cutaneous mucinosis Idiopathic cutaneous mucinosis generalized VS localized lichen myxedematosus generalized VS localized lichen myxedematosus

Introduction PATHOGENESIS PATHOGENESIS Paraprotein role Paraprotein role Paraprotein levels correlate with neither extent nor progression of the disease. However, whereas scleromyxedema serum enhances fibroblast proliferation, an immunoglobulin purified from the paraprotein-containing serum proved unable to stimulate fibroblasts to proliferate in vitro, which suggests a pathogenetic role of a circulating factor other than the paraprotein. Paraprotein levels correlate with neither extent nor progression of the disease. However, whereas scleromyxedema serum enhances fibroblast proliferation, an immunoglobulin purified from the paraprotein-containing serum proved unable to stimulate fibroblasts to proliferate in vitro, which suggests a pathogenetic role of a circulating factor other than the paraprotein.

Introduction HISTOLOGICAL TYPES HISTOLOGICAL TYPES The histopathology is distinct for scleromyxedema with collections of mucin associated with a marked proliferation of fibroblasts in the upper and mid-dermis The histopathology is distinct for scleromyxedema with collections of mucin associated with a marked proliferation of fibroblasts in the upper and mid-dermis

Introduction Diagnosis of scleromyxedema Diagnosis of scleromyxedema (1) generalized papular and sclerodermoid eruption (2) mucin deposition, fibroblast proliferation, and fibrosis (3) monoclonal gammopathy (4) the absence of thyroid disease

Introduction DISEASE ASSOCIATIONS DISEASE ASSOCIATIONS Slight to severe muscle weakness Slight to severe muscle weakness severe proximal muscle weakness is found in 27% severe proximal muscle weakness is found in 27% Mucin deposition has been found in only 2 patients Mucin deposition has been found in only 2 patients Paraproteinemia in scleromyxedema Paraproteinemia in scleromyxedema Associated with many systemic disorders and, almost constantly, with paraproteinemia (83.2%) Associated with many systemic disorders and, almost constantly, with paraproteinemia (83.2%) Usually IgG with light chains Usually IgG with light chains Joints Joints Reported in 10.5% of the patients Reported in 10.5% of the patients Arthralgia, migratory arthritis, and seronegative polyarthritis with occasional mucin deposition Arthralgia, migratory arthritis, and seronegative polyarthritis with occasional mucin deposition

Introduction Lungs Lungs Dyspnea is found in 16.7% of patients Dyspnea is found in 16.7% of patients Restrictive or obstructive lung involvement Restrictive or obstructive lung involvement Rarely pulmonary hypertension developed, mucin deposition was found in the large pulmonary veins and artery Rarely pulmonary hypertension developed, mucin deposition was found in the large pulmonary veins and artery Disturbances of the central nervous system Disturbances of the central nervous system 15% of patients 15% of patients Esophagus Esophagus Dysphagia and nasal regurgitation are reported by 31.6% of patients Dysphagia and nasal regurgitation are reported by 31.6% of patients Kidney Kidney Heart Heart Optic Optic Larynx Larynx

Introduction PROGNOSIS AND TREATMENT PROGNOSIS AND TREATMENT Recurrence Recurrence Spontaneous improvement and resolution, even after 15 years, have been described Spontaneous improvement and resolution, even after 15 years, have been described Treatment Treatment Corticosteroids; Retinoid Corticosteroids; Retinoid Response to high-dose intravenous immunoglobulin (hdIVIg). Response to high-dose intravenous immunoglobulin (hdIVIg). Complete Remission of Scleromyxedema Following Autologous Stem Cell Transplantation Complete Remission of Scleromyxedema Following Autologous Stem Cell Transplantation

History Sex: female Sex: female Age: 46 y/o Age: 46 y/o Rapid growing hematoma noted on 2002/12/15 Rapid growing hematoma noted on 2002/12/15

History 2000/5: Progressive four limbs weakness 2000/5: Progressive four limbs weakness Proximal weakness and myalgia Proximal weakness and myalgia 2001/1: Admitted to CGMH 2001/1: Admitted to CGMH NCV, EMG revealed myopathy but muscle biopsy: (-) NCV, EMG revealed myopathy but muscle biopsy: (-) 2001/4: NTUH 2001/4: NTUH Bedridden, joint cintracture Bedridden, joint cintracture IgG elevation; Bences-Jones protine IgG elevation; Bences-Jones protine Skin biopsy: mucin deposition Skin biopsy: mucin deposition Scleromyxedema was diagnosted Scleromyxedema was diagnosted Multiple systemic manifastation: myopath, dysphagia, serum paraprotine elevation Multiple systemic manifastation: myopath, dysphagia, serum paraprotine elevation

History 2002/12/15: Right thigh petechiae 2002/12/15: Right thigh petechiae Her family Her family Rapid extended to 5*5cm Rapid extended to 5*5cm Hematoma ruptured with wound necrosis Hematoma ruptured with wound necrosis Wound debridement was arranged on 2002/1/8 Wound debridement was arranged on 2002/1/8 Left knee subluxation Left knee subluxation

History Extrimity: Extrimity: Right thigh 15*7cm hematoma with skin necrosis Right thigh 15*7cm hematoma with skin necrosis Multiple joints contractures with deformity Multiple joints contractures with deformity Motor Motor MP: distal MP: distal DTR: (-) DTR: (-) Sensation: fine Sensation: fine Scleromyxedema Scleromyxedema Right thigh hematoma with local cellulitis Right thigh hematoma with local cellulitis

About our patient in OR 2003/1/8 First operation for right thigh hematoma debridement

Post-OP Complication Spontaneous scalp hematoma Spontaneous scalp hematoma Massive hematoma evacuation. ( > 500ml) Massive hematoma evacuation. ( > 500ml) PRBC 2U: Hb 9.9 PRBC 2U: Hb 9.9

Course Wound: Wound: Oozing; PRBC 6U + Cryoprecipitate 10U Oozing; PRBC 6U + Cryoprecipitate 10U Lab: Lab: Bleeding time: 10.5 sec to > 20 sec Bleeding time: 10.5 sec to > 20 sec R/O platelet dysfunction R/O platelet dysfunction R/O VWF disease R/O VWF disease

2nd operation 2003/1/17 Protection and avoid stressful sheering during operation

Course ETGA, prone ETGA, prone Diffuse oozing Diffuse oozing Hard to close Hard to close Cover open wound Cover open wound Still oozing Still oozing Hb: 12.2 to 5.4; PRBC 4U Hb: 12.2 to 5.4; PRBC 4U

Protection Hematoma protected and compression Hematoma protected and compression Portection of face Portection of face

Protection Dislocation of hip joint Dislocation of hip joint Diffuse oozing Diffuse oozing

Protection

Protection