Cryoglobulins are anti-immunoglobulin immunoglobulins (Igs) that precipitate at temperatures less than 37°C.
Mixed cryoglobulins : rheumatoid factors (RF) (usually IgM) complexed with IgG which form immune complexes.
Mixed cryoglobulinemia : considered essential if it is not associated with any disease other than Sjogrens syndrome
Porphyria cutanea tarda
Porphyria cutanea tarda (PCT) is characterized by an abnormal porphyrin metabolism secondary to decreased activity of uroporphyrinogen decarboxylase (URO-D).
The cutaneous findings: skin fragility, blister formation, hyperpigmentation and hypertrichosis, by the photosensitizing action of accumulated porphyrins
Lichen planus is a chronic inflammatory mucocutaneous disease process. It usually presents as small, pruritic, purple, planar, polygonal papules with superimposed fine, reticulated white lines called Wickham's striae.
Mucous membrane lesions are typically lacy white or ulcerative.
Inflammatory bowel diseases Inflammatory disorders of the bowel discussed here include ulcerative colitis (UC), Crohn's disease, and bowel bypass syndrome Both UC and Crohn's disease (the traditional inflammatory bowel diseases [IBD]) can present with abdominal pain, GI bleeding, or diarrhea. Bowel bypass syndrome : a bacterial overgrowth in the blind loop associated with a dermatosis-arthritis syndrome
Pathogenesis of extraintestinal manifestations of inflammatory bowel syndrome
The mucosa from the underlying bowel disease provides associated immune responses for the inflammatory process in the extraintestinal sites.
Autoimmune response increases with the presence of foreign proteins or bacterial products in the intestinal mucosa.
Shared epitopes between bacterial proteins and host self-antigens.
Microbial peptides cross-reactive to the cellular autoantigenic epitope may initiate the autoimmune response
Cutaneous syndromes and the GI Tract Cutaneous syndromes associated with gastrointestinal diseases and malignancy Abbreviations : AD, autosomal dominant; BCC, basal cell carcinoma; GI, gastrointestinal; MEN, multiple endocrine neoplasia; MSH. Syndrome Inheritance Cutaneous findings Internal Associations With increased DEFECT risk of malignancy Gardner’s Syndrome AD Osteoma, desmoid Intestinal polyposis, (familial Chromosome 5 tumors epidermoid colon cancer, thyroid Polyposis cysts, dental cancers, retinal Syndrome) anomalies abnormalities
Syndrome Inheritance Cutaneous findings Internal Associations Cronkhite Acquired Alopecia, nail GI polyps, colon Canada dystrophy; macular carcinoma, diarrhea Syndrome hyperpigmentation abdominal pain Cowden’s AD Hamartomas of Hamartomas and disease Mutation PTEN mucous membranes malignancy of colon, (multiple Gene / facial breast, thyroid, Hamatoma chromosome tricholemmonas, renal and bladder Syndrome) 10 papillomas Palmar- colon polyps plantar keratoses, scrotal tongue Muir – Torre ADMutation in Sebaceous gland tumors, Nonpolyposis colon cancer BCC with sebaceous differentiation MSH2 gene on
Syndrome Inheritance Cutaneous findings Internal Associations Peutz – AD Periorifical and Hamartomas polyps Jeghers mucosal lentigines, throughout GI tract Syndrome pigmented maculae increased incidence hands and feet of malignancy throughout GI tract, ovarian tumors, pancreatic carcinoma gallbladder cancer, GI bleeding, pancreatic carcinoma
Cutaneous syndromes associated with gastrointestinal diseases and malignancy Syndrome Inheritance Cutaneous findings Internal Associations Howell- Palmer - plantar Esophageal carcinoma Evans’ hyperkeratosis syndrome Bazex’s Acquired Acrodermatitis, Esophageal, laryngeal, syndrome nail dystrophy tongue carcinoma MEN type I AD Multiple facial Pituitary, parathyroid, (Wermer’s Mutation in angiofibromas, pancreatic endocrine syndrome) MEN I gene collagenomas, abnormalities, peptic U on chromosome lipomas, confetti-like disease,Zollinger-Ellison 11 hypopigmented syndrome, gastronoma, macules insulinoma, carcinoid.
Syndrome Inheritance Cutaneous findings Internal Associations MEN IIA AD Amyloidosis Medullary thyroid ( Sipple’s Mutation in RET carcinoma, syndrome) gene on pheochromocytoma, chromosome 10 hyperparathyroidism, Zollinger – Ellison syndrome, Cushing’s syndrome, malignant melanoma, pitutary ad. MEN IIB AD Multiple mucosal Hirschprung’s disease, Mutation in RET neuromas, cervical medulloblasoma gene on marfinoid body increased risk of chromosome 10 habitus, nasal malignancy neuromas
Miscellaneous cutaneous diseases associated with GI disorders;
Scleroderma (systemic sclerosis
The dermatologic changes: sclerotic changes that eventually involve the entire body, telangiectases, hyperpigmentation and hypopigmentation
The esophageal symptoms :feeling of premature fullness, reflux esophagitis, dysphagia, and epigastric pain.
Stomach and small bowel :anorexia, early fullness, diarrhea, nausea/vomiting, and obstipation caused by impaired motility, which, in turn, leading to chronic intestinal pseudo-obstruction, malnutrition, and bacterial overgrowth
Early recognition of cutaneous diseases or manifestations associated with the gastrointestinal tract disorders may be lifesaving at times, and may lead to early preventive intervention to decrease risk of morbidity or mortality.