Abnormalities in dermal connective tissue
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ABNORMALITIES IN DERMAL CONNECTIVE TISSUE. Erik Austin, D.O., M.P.H. Elastosis perforans serpiginosa – Serpiginous arrangement of confluent, keratotic papules on the arms, face/neck, legs. Keratotic papules of EPS Typical site affected = neck. Elastosis perforans serpiginosa EPS.

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Abnormalities in dermal connective tissue l.jpg

ABNORMALITIES INDERMAL CONNECTIVE TISSUE

Erik Austin, D.O., M.P.H.


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Elastosis perforans serpiginosa – Serpiginous arrangement of confluent, keratotic papules on the arms, face/neck, legs


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Keratotic papules of EPSTypical site affected = neck


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Elastosis perforans serpiginosaEPS

  • MC in young adults with a M:F ratio of 4:1

  • Runs a variable course of 6 mos to 5 years with spontaneous resolution

  • Associated with: Down Syndrome, Ehlers-Danlos, osteogenesis imperfecta, Marfan’s, Rothmund-Thomson, acrogeria, systemic sclerosis

  • Tx = LN2, Penicillamine


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Transepidermal elimination of neutrophils and elastic fibers from the dermis through a channel in the epidermis

EPS


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Reactive perforating collagenosis (RPC) from the dermis through a channel in the epidermisKeratotic papules on upper extremity, face or buttocks


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Reactive perforating collagenosis from the dermis through a channel in the epidermisRPC

  • Rare, familial, non-pruritic skin disorder

  • Lesions begin in 2nd decade

  • Involution occurs after 6-8 weeks, with new crops appearing for years

  • May be a reaction to trauma

  • Acquired form may be assoc. w/systemic dz

  • TX = treat underlying disease


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Pseudoxanthoma elasticum (PXE) from the dermis through a channel in the epidermis

  • Yellow papules, calcified plaques, sagging skin; chicken skin


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Pseudoxanthoma elasticum from the dermis through a channel in the epidermisPXE

  • Inherited disorder of the skin, eyes, and cardiovascular system

  • Has recessive and dominant inheritance

  • Exaggerated nasolabial folds is characteristic

  • Involvement of the cardiovascular system occurs with a propensity to hemorrhage


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Mucosal lesions from the dermis through a channel in the epidermis

  • Retinal change = Angioid streaks; in up to 85%


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Pseudoxanthoma elasticum from the dermis through a channel in the epidermisPXE

  • Mitral valve prolapse, 71% of 14 pts

  • Young pt w/hypertension = r/o PXE

  • Histo: mid-dermis w/elastic fibers that are swollen and granular - “raveled wool”

  • No distinctive therapy

  • Limit dietary calcium and phosphorus


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Histopathology of PXE from the dermis through a channel in the epidermis

  • A. calcium deposits on elastic fibers in advanced PXE

  • B. irregularly clumped elastic fibers, Verhoeff van Giesson


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Perforating calcific elastosis from the dermis through a channel in the epidermis

  • Acquired, localized disorder

  • Frequently found in obese, multiparous, middle-aged women

  • Yellowish, lax, well circumscribed, reticulated or cobblestones plaques occur in the periumbilical region with keratotic papules


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Perforating calcific elastosis from the dermis through a channel in the epidermis

  • Shares features with PXE, without systemic features

  • Trauma of pregnancy, obesity or surgery promote elastic fiber degeneration

  • No effective therapy


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Ehlers-Danlos syndromes from the dermis through a channel in the epidermis

  • A group of genetically distinct disorders characterized by excessive stretchability and fragility of the skin

  • Tendency toward easy scar formation, calcification of the skin to produce, pseudotumors, and hyperextensibility of the joints


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Clinical features of from the dermis through a channel in the epidermisEhlers-Danlos syndrome


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  • Two types of growths seen with EDS from the dermis through a channel in the epidermis

  • Molluscum pseudotumor = a soft fleshy nodule seen in areas of trauma

  • Spheroids = hard subcutaneous nodules that become calcified, ?Result of fat necrosis


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Marfan syndrome and possibly VIII = AD

  • AD

  • Skeletal, cardiovascular, and ocular involvement

  • Important abnormalities include: tallness, loose-joints, a dolichocephalic skull, high arched palate, arachnodactyly, pigeon breast, pes planus, poor muscular tone, large deformed ears


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Cutis laxa (generalized elastosis) integument is involved

  • AD = primarily cutaneous, good prognosis

  • AR = significant internal involvement, die young

  • X-linked recessive = occipital horn syndrome

  • Nonfamilial forms have been described

  • May be associated with an underlying disease or inflammatory skin process

  • Mid-dermal elastosis is an acquired, nonfamilial condition affecting primarily young women, cause unknown

  • Tx = disappointing; surgery is unsuccessful


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Cutis laxa (generalized elastosis) integument is involved

  • Premature aging, severe pulmonary emphysema, and fragmentation of dermal elastic fibers


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Blepharochalasis integument is involved

  • Lax eyelid skin due to swelling of lids

  • Uncommon

  • AD

  • Lack of elastic fibers, and abundant IgA deposits have been demonstrated

  • Ascher Syndrome = progressive enlargement of the upper lip and blepharochalasis / treatment is surgical


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Anetoderma (macular atrophy) integument is involved

  • A group of disorders characterized by looseness of the skin due to loss of elastic tissue


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Anetoderma (macular atrophy) integument is involved


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Anetoderma – macular atrophy and atrophic plaques – buttonhole sign. Typical location: trunk, arms, shoulders, thighs




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Striae distensae reticular dermis

  • Can occur secondary to pregnancy or after sudden weight gain or muscle mass

  • Associated with Cushing’s syndrome and

  • Prolonged application of topical steroids

  • Overtime striae become less noticeable

  • Tx = topical tretinoin; vascular lasers


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Linear focal elastosis reticular dermis(elastotic striae)

  • Asymptomatic, palpable, striaelike yellow line of the middle and lower back

  • Distinguished from striae in that there is no depression


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Acrodermatitis chronica atrophicans reticular dermis

  • Acquired diffuse thinning of the skin

  • Reddish appearance on extensor surfaces

  • Progresses to smooth , soft, atrophic skin

  • Results from infection with Borrelia


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Osteogenesis imperfecta reticular dermis

  • Affects: bones, joints, eyes, ears, and skin

  • types I-IV, I and IV = AD

  • II and III = AD/AR

  • 50% are type I

  • type II is lethal within 1st week of life

  • Brittle bones, fractures occur early in life, sometimes in utero

  • Loose-jointedness and dislocations


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Osteogenesis imperfecta reticular dermis

  • Blue sclera

  • Deafness

  • Thin skin; atrophic scars

  • EPS has associated


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Osteogenesis imperfecta reticular dermis

  • Defect is abnormal collagen synthesis, resulting in type I collagen of abnormal structure

  • Major causes of death = respiratory failure and head trauma

  • Type I and IV have a normal life span

  • TX = Pamidronate


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Homocystinuria reticular dermis

Inborn error in the metabolism if methionine

  • Homocystine in the urine and CT abnormalities

  • cystathionine synthetase deficient

  • Genu valgum, kyphoscoliosis, pigeon breast, frequent fractures


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Homocystinuria reticular dermis

  • Facial skin has a characteristic flush

  • Other skin is blotchy red

  • Hair is fine, sparse and blonde

  • Teeth are irregularly aligned

  • Downward dislocations of lens

  • TX = hydroxocobalamin and cyanocobalamin – variable results


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ERRORS IN METABOLISM reticular dermis


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SYSTEMIC AMYLOIDOSIS reticular dermisprimary systemic amyloidosis

  • Involves mesenchymal tissue, the tongue, heart, gastrointestinal, and skin

  • Cutaneous manifestations in 40%

  • Amyloid fibril proteins are composed of AL

  • Derived from immunoglobulin light chains

  • 90% will have fragment in urine and serum


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SYSTEMIC AMYLOIDOSIS reticular dermisprimary systemic amyloidosis

  • Waxy, firm, flat-topped or spherical papules

  • Coalesce to form nodules and plaques

  • Eyes, nose, mouth, and mucocutaneous junctions are commonly involved

  • Purpuric lesions and ecchymosis (15%)

  • Results from amyloid infiltration of vessels


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SYSTEMIC AMYLOIDOSIS reticular dermisprimary systemic amyloidosis

  • Glossitis with macroglossia (20%)

  • May cause dysphagia

  • Bullous disease is rare and scarring

  • Subepidermal: DDx PCT and EBA


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SYSTEMIC AMYLOIDOSIS reticular dermisprimary systemic amyloidosis

  • Systemic findings: peripheral neuropathies, arthropathy, GI bleeding, cardiac disease

  • Prognosis is poor, median survival 13 mos, 5 mos in myeloma associated cases

  • Treatment is difficult = melphalen, prednisone, hematopoietic stem cell transplantation


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primary systemic amyloidosis reticular dermis

  • Macroglossia with dental impression of the tongue


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Periorbital ecchymosis, “raccoon sign” reticular dermis

primary systemic amyloidosis


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primary systemic amyloidosis reticular dermis

  • Numerous waxy and translucent papules


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Secondary systemic amyloidosis reticular dermis

  • Amyloid involvement of adrenals, liver spleen, and kidney as a result of some chronic disease (TB, leprosy, etc.)

  • Skin is not involved

  • Amyloid fibrils are designated AA, protein component is unrelated to immunoglobulin

  • Treat the underlying condition


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CUTANEOUS AMYLOIDOSIS reticular dermisprimary cutaneous amyloidosis

  • Divided into macular and lichen amyloid

  • Asian , Hispanic, and Middle Eastern

  • Amyloid deposition contains keratin

  • Histologic picture is similar for both

  • Differ only in size of amyloid deposits

  • Absence of amyloid deposits around blood vessels excludes systemic involvement



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Lichen amyloidosis pattern

  • Pruritic, keratotic, hyperigmented plaques on the legs

  • Tx = high potency corticosteroids, oral retinoids, cyclophosphamide, dermabrasion and occlusion


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Nodular amyloidosis pattern

Extremities, trunk, genitals and face with localized nodules

  • Lesions contain numerous plasma cells, amyloid is immunoglobulin-derived AL

  • TX = physical removal or destruction


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Secondary cutaneous amyloidosis pattern

  • Following PUVA therapy and in benign and malignant cutaneous neoplasms, deposits of amyloid may be found

  • Most frequently associated neoplasms are NMSC and SKs

  • In all cases, this is keratin-derived amyloid


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Familial syndromes associated with amyloidosis (heredofamilial amyloidosis)

  • Muckle-Wells syndrome

  • MEN IIA

  • Most present with neurologic disease and are now designated familial amyloidotic polyneuropathy

  • Four types identified FAP I through IV

  • AD inherited


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PORPHYRIAS (heredofamilial amyloidosis)

  • Porphyrinogens are the building blocks of hemoproteins

  • Produced primarily in the liver, bone marrow and erythrocytes

  • Each form is associated with a deficiency in the metabolic pathway of heme synthesis


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Current grouping of the porphyrias is based on the primary site of increased porphyrin production l.jpg

Erythropoietic forms the increased porphyrins leads to photosensitivity

Congenital erythropoietic porphyria (CEP)

Erythropoietic protoporphyria (EPP)

Erythropoietic coproporphyria ECP

Hepatic forms

Acute intermittent porphyria (AIP)

ALA dehydrogenase deficiency

Hereditary coproporphyria (HCP)

Variegate porphyria (VP)

Porphyria cutanea tarda

Current grouping of the porphyrias is based on the primary site of increased porphyrin production


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Porphyria cutanea tarda the increased porphyrins leads to photosensitivity

  • Most common porphyria

  • Photosensitivity leads to bullae, which leads to ulcers, scarring, milia and dyspigmentation

  • Hypertrichosis, fragility and skin thickening


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Multiple erosions with hemorrhagic crusts, as well as an intact blister on the lateral fourth finger


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PCT in chronic renal failure intact blister on the lateral fourth finger


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PCT intact blister on the lateral fourth finger


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  • Deficiency = uroporphyrinogen decarboxylase intact blister on the lateral fourth finger

  • Most common = sporadic nonfamilial form, (80%), abnormal enzyme activity

  • Presents in midlife

  • Familial type = AD; deficiency in liver and RBCs

  • Nonfamilial = acquired toxic; associated with exposure to hepatotoxins


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  • Diagnosis = suspected on clinical grounds intact blister on the lateral fourth finger

  • Coral red fluorescence of urine

  • 24 hour urine

  • Uroporphyrins to coproporphyrins 3:1 to 5:1

  • DIF shows IgG and C3 at the DEJ, and in the vessel walls in a linear pattern


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Histologic features of PCT intact blister on the lateral fourth finger

  • Subepidermal blister with minimal dermal inflammatory infiltrate. Festooning of dermal papillae.


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treatment intact blister on the lateral fourth finger

  • Remove environmental exposures

  • Sunscreens

  • Phlebotomy / uroporphyrinogen decarboxylase is inhibited by iron

    • 500 ml at 2 week intervals, hemoglobin 10 g/dL

    • Several months, 6-10 phlebotomies

  • Antimalarials / full doses may produce severe hepatotoxic reaction


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  • Remission may last for years intact blister on the lateral fourth finger

  • Iron chelation

  • May respond to transplant in renal failure

  • May improve with treatment if assoc. with Hep C


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pseudoporphyria intact blister on the lateral fourth finger

  • Skin and Histo similar to PCT

  • Normal urine and serum porphyrins

  • No hypertrichosis, dyspigmentation or cutaneous sclerosis

  • Commonly caused by NSAIDs, naproxen,

    sunbed use, hemodialysis


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treatment intact blister on the lateral fourth finger

  • Sun protection

  • Discontinue inciting medication

    • May resolve over several months


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Hepatoerythropoietic porphyria intact blister on the lateral fourth finger

  • Very rare form / AR

  • Deficiency of uroporphyrinogen decarboxylase, 10% of normal in both the liver and erythrocytes

  • Dark urine at birth

  • Vesicles, scarring, hypertrichosis, pigmentation, red fluorescence of teeth


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Hepatoerythropoietic porphyria intact blister on the lateral fourth finger


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Acute intermittent porphyria intact blister on the lateral fourth finger

  • Second most common form

  • Characterized by periodic attacks of abdominal colic, gastrointestinal disturbances, paralyses, and psychiatric disorders

  • No skin lesions are seen

  • AD / deficiency in porphobilinogen deaminase

  • Only 10 % develop disease, all are at risk for primary liver cancer


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  • Severe abdominal colic +/- NVDC intact blister on the lateral fourth finger

  • Elevated urinary porphobilinogen

  • Increased dALA in plasma and urine

  • No specific treatment

  • Avoid precipitating factors

  • Glucose loading


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  • Hematin infusions intact blister on the lateral fourth finger

  • Pain management

  • Oral contraceptives may prevent attacks in women with premenstrual symptoms


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Hereditary coproporphyria intact blister on the lateral fourth fingerHCP

  • Rare, AD

  • Deficiency of coproporphyrinogen oxidase

  • One third are photosensitive

  • Prone to GI attacks

  • Fecal coproporphyrin is always increased

  • Urinary coproporphyrin, ALA, and PBG are only increased during attacks


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Variegate porphyria intact blister on the lateral fourth fingerVP

  • AD

  • Decreased activity of protoporphyrinogen oxidase

  • Majority of relatives have silent VP

  • Characterized by skin lesions of PCT and the GI and neurologic disease of AIP


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Erythropoietic protoporphyria at 626 nm is characteristic and distinguishes this form from othersEEP

  • AD and AR forms

  • Ferochelatase activity is 10 to 25% of normal in affected persons

  • Typically presents in childhood, 2-5 years

  • Burning of the skin upon sun exposure

  • Elevated protoporphyrin IX absorbs both the Soret band and also at 500-600 nm


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  • Severe liver disease in 10% at 626 nm is characteristic and distinguishes this form from others

  • Excessive porphyrins are deposited in liver

  • Diagnosis on clinical grounds

  • Urine porphyrin levels are normal

  • Erythrocyte protoporphyrin is elevated

  • Erythrocyte, plasma, and fecal protoporphyrin can be assayed to confirm the diagnosis


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  • Skin biopsy confirms diagnosis at 626 nm is characteristic and distinguishes this form from others

  • Tx = sun protection

  • Beta carotene, phototherapy, cysteine

  • Transfusions for anemia


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Erythropoietic protoporphyria at 626 nm is characteristic and distinguishes this form from others

  • Subtle scarring


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Erythropoietic protoporphyria at 626 nm is characteristic and distinguishes this form from others

  • Erythema and hemorrhagic crusts


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Congenital erythropoietic porphyria, CEP at 626 nm is characteristic and distinguishes this form from others

  • Gunther’s disease

  • AR; defect of uroporphyrinogen III synthase

  • Presents after birth with red urine

  • Severe photosensitivity

  • Blistering, scarring, ectropion and corneal damage


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Congenital erythropoietic porphyria eyelashes, “monkey face”

  • Erythrodontia

  • Severe mutilation


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Fluorescence of circulating red blood cells, CEP with UVA eyelashes, “monkey face”

Vs. transient fluorescence in EPP


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  • High amounts of uroporphyrin I and coproporphyrin I are found in the urine, stool and red cells

  • Treatment – strict avoidance of sunlight and sometimes splenectomy for the hemolytic anemia

  • Oral activated charcoal

  • Repeated transfusions to maintain hematocrit level at 33% - turns off demand for heme

  • Bone marrow transplantation


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Transient erythroporphyria of infancy (purpuric phototherapy-induced eruption)

  • Report of seven infants exposed to 380 to 700 nm blue lights, for the treatment of indirect hyperbilirubinemia, who developed marked purpura on the exposed skin

  • All infants had received transfusions

  • Elevated plasma coproporphyrins and protoporphyrins were found in 4

  • Pathogenesis is unknown


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