Dermatopathology of the Degenerative, Metabolic, and Storage Diseases
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DERMATOPATHOLOGY OF THE DEGENERATIVE, METABOLIC AND STORAGE DISEASES (Nobody wants this lecture) Daniel J. Santa Cruz St Louis, MO, USA Thanks to: Dr Franco Rongioletti, Naples, Italy Dr Mario Marini, Buenos Aires, Argentina Dr Susan Mallory, St Louis, MO DERMATOPATHOLOGY OF THE ELASTIC FIBERS Daniel J. Santa Cruz Cutaneous Pathology St Louis, MO, USA ELASTIC FIBERS Oxytalan Elaunin Elastic fibers Elastic tendons of the arrectore pilori ELASTIC TISSUE STAINS Verhoff-Van Giesson Orcein (Orcein-Giemsa) Aldehide fucsin (Gomori) Iron galein (Churukian) Fucsin resorcin (Weigert) AUTOFLUORESCENCE ELASTOTIC PROCESSES Actinic elastosis Coloid milium Elastotic papules of the ear Linear focal elastosis Acrokeratoelastoidosis Elastofibroma ELASTOSIS Morphea ELASTOTIC PAPULE OF THE EAR ACROKERATOELASTOIDOSIS ELASTOFIBROMA ELASTIC NEVUS Isolated Multiple Associated with osteopoikilosis (Buschke-Ollendorf syndrome) BUSCHKE-OLLENDORF SYNDROME University of Miami . Autosomal dominant . Osteopoikilosis . Dermatofibrosis lenticularis disseminata TRANSEPIDERMAL MIGRATION OF ELASTIC FIBERS . Discoid lupus erytemathosus . Keratoacanthoma . Scar KERATOACANTHOMA PSEUDOXANTHOMA ELASTICUM Primary Acquired Post treatment Perforative post pregnancy Fertilizer (Salt peter) PSEUDOXANTHOMA ELASTICUM PSEUDOXANTHOMA ELASTICUM PSEUDOXANTHOMA ELASTICUM ELASTIC DERMATOSES SUI GENERIS Elastosis perforans serpiginosa Elastolytic (actinic) granuloma ELASTOSIS PERFORANS SERPIGINOSA ELASTOSIS PERFORANS SERPIGINOSA ELASTOLYTIC PROCESSES Stria Cutis laxa Anetoderma Atrophoderma Middermal elastolysis Perifollicular elastolysis Fibroelastolytic papulosis of the neck Pseudoxanthoma elasticum-like papillar elastolysis STRIA PXE-like papillary elastolysis ANETODERMA ANETODERMA ATROPHODERMA (PASINI-PIERINI) MIDDERMAL ELASTOLYSIS MIDDERMAL ELASTOLYSIS MIDDERMAL ELASTOLYSIS ELASTIC FIBERS IN TUMORS Nevi Dermatofibroma Keratoacanthoma Syringoma Mixed tumor (Chondroid syringoma) DERMATOFIBROMA Elastic fibers MUCOUS PSEUDOCYST MUCOUS PSEUDOCYST FOCAL DERMAL MUCINOSIS CUTANEOUS MYXOMA CARNEY’S COMPLEX Myxoid follicular tumors Myxoid mammary fibroadenomas Cardiac myxomas “Pigmented” nodular adrenocortical adenoma Hyalinizing trabecular adenoma of the thyroid Psammamatous melanotic schwannoma Epithelioid blue nevus Chromosome locus 17q2 CARNEY’S COMPLEX The cutaneous myxomas occurred in 22 (54%) of the patients. The cutaneous tumors were detected previously to the cardiac neoplasm in 13 (81%) of the 16 patients that had an atrial myxoma. CARNEY’S COMPLEX Cutaneous myxomas Clinical characteristics Early occurrence (average 18 years) Multicentricity (71%) Small size (under 1 cm) Universal distribution, but with preference for eyelids, ears and nipples Tendency to reccur Carney JA, Headington, JT and Daniel Su WP. Arch Dermatol 122: 790-798, 1986 CUTANEOUS MYXOMA Carney’s complex CARDIAC MYXOMA Carney’s complex CARNEY’S COMPLEX CARNEY’S COMPLEX Carney JA, Gordon H Carpenter PC et al. The complex of myxomas, spotty pigmentation, and endocrine overactivity. Medicine 64: 270-283, 1985 Scleromyxedema Patient Presentation 54 WM with 5 year history of waxy yellow coalescing 2- 3 mm papules over the dorsal hands, digits, ears, scalp, axilla, and neck ‘Doughnut sign’ and ‘beads on a string’ Patient Presentation Woody induration of the facial skin and hands Glabella invovlement Histopathology Deposition of interstitial mucin Mild dermal fibrosis Histopathology Deposition of interstitial mucin Colloidal Iron Stain Presence of dermal mucin confirmed by colloidal iron stain Lichen Myxedematosus Chronic, progressive, idiopathic disorder Two clinicopathologic subsets Generalized papular and sclerodermoid form Generalized papular and sclerodermoid eruption Histologic triad: Mucin deposition, fibroblast proliferation, fibrosis Monoclonal gammopathy and systemic manifestations Absence of thyroid disease Localized papular form without systemic involvement Systemic Manifestations Hematologic - Paraproteinemia 83% - Multiple myeloma 10% - Hematologic malignancies iatrogenic Gastrointestinal 31% - Dysphagia Musculoskeletal - Proximal muscle weakenss due to myositis 27% - Arthritis/arthralgias 10% CNS disturbances 15% - 10 cases of coma have been described - seizures - Peripheral neuropathy - Carpal tunnel syndrome Renal - Scleroderma-like renal disease CR Pulmonary - Restrictive or obstructive lung disease 17% “Dermato-neuro” Syndrome Patients can develop serious CNS involvement—etiology unclear and work-up is negative Flu-like prodrome Confusion Dysarthria Ascending paralysis Seizures coma 6 reports of deaths resulting from seizures Other reports of intractable seizures requiring sedation and ventilation >10 reports of associated coma Associated Gammopathy Paraproteinemia present in 80% Usually IgG with lambda light chains. Fewer than 10% of cases progress to MM It has been proposed that the PP Ab acts as a direct stimulant of fibroblasts in the skin Paraprotein levels do not correlate with extent, progression, or treatment of the disease. Cutaneous lesions can precede PP Associated Gammopathy Patient serum enhances fibroblast proliferation, hyaluronic acid, and prostaglandin-E production in vitro Isolated Ig from the same patients did not stimulate fibroblasts. This suggests some other “circulating factor” 1. Harper RA, Rispler J. Lichen myxedematosus serum stimulates human skin fibroblast proliferation. Science 1978;19:545-7. 2. Yaron M, Yaron I, Yust I Brenner S. Lichen myxedematosus (sleromyxedema) serum stimulates hyaluronic acid and prostaglandin E production by human fibroblasts. J Rheumatol 1985;12:171-5. SCLEROMYXEDEMA SCLEROMYXEDEMA SCLEROMYXEDEMA AMYLOIDOSIS Amyloidosis is a clinical disorder caused by extracellular deposition of insoluble abnormal fibrils, derived from aggregation of misfolded, normally soluble, protein About 23 different unrelated proteins are known to form amyloid fibrils in vivo, which share a pathognomonic structure although they are associated with clinically distinct conditions. In local amyloidosis, the amyloid is restricted to a particular organ or tissue. In systemic amyloidosis, deposits can be present in any or all of the viscera, connective tissue, and blood vessel walls, although intracerebral amyloid deposits are never found. Acquired amyloidosis is a complication of preexisting primary disease that produces either an inherently amyloidogenic abnormal protein or greatly increased amounts of potentially amyloidogenic normal protein. Hereditary amyloidosis is caused by mutant genes encoding variant proteins whose structure makes them amyloidogenic. AMYLOIDOSIS Amyloid precursor proteins of dermatological interest Immunoglobulin light chain-derived (AL) Serum amyloid A protein (SAA) β2-microglobulin Transthyretin ATTR) Gelsoin (AGel amyloidosis) Epidermal keratinocyte keratins (amyloid-K) AMYLOIDOSIS Systemic amyloidosis Primary and myeloma associated Secondary Heredofamilial Amyloid elastosis Localized cutaneous amyloidosis Lichen, papular, and macular Nodular Poikilodermatous Familial cutaneous Secondary localized PAPULAR AMYLOIDOSIS PAPULAR AMYLOIDOSIS PAPULAR AMYLOIDOSIS PAPULAR AMYLOIDOSIS PAPULAR AMYLOIDOSIS PAPULAR AMYLOIDOSIS CONGO RED THIOFLAVIN T PAPULAR AMYLOIDOSIS CONGO RED WITH POLARIZATION PANKERATIN Kappa Lambda CONGO RED CONGO RED POLARIZED LIGHT SYSTEMIC AMYLOIDOSIS SYSTEMIC AMYLOIDOSIS AMYLOIDOSIS Secondary localized Basal cell carcinoma Actinic keratosis Bowen’s disease Seborrheic keratosis DSAP Trichoblastoma Cylindroma CALCINOSIS CUTIS CALCINOSIS CUTIS CALCINOSIS CUTIS Derm Atlas. Dr Zirky contribution Calcinosis cutis in scleroderma. Univ of Iowa .