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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)
University of Miami BUSCHKE-OLLENDORF SYNDROME
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
- Multiple myeloma
- Hematologic malignancies
83%
10%
iatrogenic
Gastrointestinal
- Dysphagia
31%
Musculoskeletal
- Proximal muscle weakenss due to myositis
- Arthritis/arthralgias
27%
10%
CNS disturbances
- 10 cases of coma have been described
- seizures
- Peripheral neuropathy
- Carpal tunnel syndrome
15%
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
CONGO RED
PAPULAR AMYLOIDOSIS
THIOFLAVIN T
CONGO RED WITH POLARIZATION
PAPULAR AMYLOIDOSIS
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
Calcinosis cutis in scleroderma. Univ of Iowa
