[考生加油] Dermatological Recall: Chapter 71 Acquired Perforating Disorders 穿透性疾病

皮膚科有一群奇癢的怪病，會出現嚴重的搔癢以及真皮物質穿出皮膚表面的特性，因此稱為穿透性疾病(perforating disorders)。

Chapter 71 :: Acquired Perforating Disorders

:: Garrett T. Desman & Raymond L. Barnhill

鄭煜彬(20200122)

What is the definition perforating disorders?	Transepidermal elimination of connective tissue elements.
What is the classification of perforating disorders?	Primary (1) familial (2) acquired Secondary(come from other primary dermatoses)
What diseases may develop secondary perforating disorders?	Deposition: Hematomas, Perforating calcinosis cutis, Gout (urate), Papular mucinosis (mucin), Perforating pseudoxanthoma elasticum Granulomatous disorders: Granuloma annulare, Necrobiosis lipoidica, Rheumatoid nodule, Sarcoidosis, Foreign body (silica, wood splinter, glass, metal) Infection: chromomycosis, leprosy Tumor: melanoma, pilomatrixoma, epithelioid sarcoma
What are familial primary perforating disorders(2)?	Reactive perforating collagenosis(RPC) & elastosis perforans serpiginosa(EPS).
What are adult-onset acquired primary perforating disorders(4)?	1.          Kyrle disease (KD) 2.          acquired perforating collagenosis(APC) 3.          perforating folliculitis 4.          acquired elastosis perforans serpiginosa (AEPS)
What is the umbrella designation of acquired primary perforating disorder?	Acquired perforating dermatosis (APD), including KD, APC, perforating folliculitis, & AEPS
CLINICAL FEATURES
What is the clinical features of APD?	Round, umbilicated, skin-colored, erythematous or hyperpigmented papules & nodules with a central crust/keratotic plug on the extensor sides of limbs & trunk (APC, KD) > face, scalp (sparing mucosa)
What is the special distributions of APD?	Linear distribution & follicular-based distribution(perforating folliculitis)
Why does the APD lesions arise in a line?	It is caused by scratching & koebnerization (it might have pain and pruritus)
What is the clinical features of EPS?	1.          It may be familial (AD inheritance) or acquired 2.          Crusted erythematous papules with central atrophy/cribriform scarring & a serpiginous configuration 3.          Localized to 1 region: neck, trunk, or limbs 4.          Asymptomatic, Koebner (+) occationally 5.          F>M (>4:1)
What is the most common cause of acquired EPS(AEPS)?	D-penicillamine which is taken for Wilson disease & other diseases, (rare)chronic kidney disease.
What is the clinical features of reactive perforating collagenosis (NOT APC)?	1.          An extremely rare familial disorder 2.          Most commonly presents in early childhood 3.          F=M(1:1), as other APDs 4.          AD or AR inheritance 5.          Looks like other APDs, localized to limbs>> face 6.          The strongest koebnerization response
What are the associations  of adult-onset nonfamilial /acquired primary lesions?	1.          Chronic kidney disease (undergoing dialysis & renal transplants) 2.          Diabetes mellitus (diabetic nephropathy) 3.          The healthy with no known associated illnesses
What disease is most similar to APD?	Prurigo nodularis
How about the relationship between APD & associated diseases?	Parallels systemic diseases: KD, APC Waxing-&-waning course, unassociated with systemic diseases: perforating folliculitis
What drug may be associated with APD?	TNF-α inhibitors, indinavir, & sorafenib.
What inborn diseases may be associated with APD?	Down syn. & Ehlers-Danlos syn., Marfan syn., osteogenesis imperfecta, scleroderma, & pseudoxanthoma elasticum (MED SOP醫療ＳＯＰ)
What is the ranking of age of onset?	KD/APD(4th decade)>perforating folliculitis(3rd decade)> AEPS(3rd decade)
Where is the site of perforating folliculitis?	Hair-bearing portions of extremities.
Where is the site of KD/APC?	Extensor of limbs, head, neck, & trunk
Where is the site of AEPS?	Nape, face, & limbs
What is the clinical findings of AEPS?	Papules in serpiginous configuration + central atrophy
What is the associations of KD/APC?	Renal failure/hemodialysis, DM, & hepatic insufficiency (腎糖肝)
What is the associations of perforating folliculititis?	Idiopathic, minor with renal failure/hemodialysis(腎糖)
What is the associations of AEPS?	Down syn., Ehlers-Danlos syn., oestogenesis imperfecta, pseudoxanthoma elasticum, minor with renal failure (MED SOP不含Ｍ＆Ｓ)
What type of APDs has Koebner phenomenon?	KD/APC, AEPS(occasionally)
ETIOLOGY AND PATHOGENESIS
What is the relationship of perforating folliculitis, APD, & KD?	They are in a disease spectrum or different stages in lesional development(folliculitis→APD→KD ).
What might be the primary disorder of perforating folliculitis?	Infectious folliculitis, such as Pityrosporum folliculitis.
What is the most important mechanism of APD?	Pruritus → manipulation/trauma
What is the role of DM in the mechanism of APD? (3)	1.          DM→advanced glycation end product →vasculopathy/angiopathy 2.          DM→advanced glycation end product–modified collagens I & III binds CD36→ keratinocyte terminal differentiation & upward movement of keratinocytes along with glycated collagen 3.          DM→↑Fibronectin→keratinocytes acts with collagen IV
What are the other mechanisms of APD?	1.          Dialysis→dermal microdeposition (calcium salts, silicon) 2.          Vitamin A deficiency. 3.          Uremia→↑fibronectin→keratinocytes acts with collagen IV 4.          Imbalances in TGF-β3, MMP-1, & tissue inhibitor of metalloproteinase-1(TIMP-1) →disturbance of matrix.
What is the possible mechanisms of EPS	1.          ↑elastin receptors(both familial & acquired) 2.          Penicillamine→“bramble bush–appearing”  elastic fibers
DIAGNOSIS
HISTOPATHOLOGY
What are the pathological features of APD?	Epidermis: follicular/perifollicular, transepidermal elimination of dermal material through an epidermal invagination + central keratotic plug + crusting or hyperkeratosis. Dermis: Nφ→ lymphcytes, Mφ, multinucleated giant cells
What is the pathological difference between APDs?	APC: collagen bundles in the plug Perforating folliculitis: “follicular APC” AEPS: elastic fibers in the plug KD: amorphous dermal material + fibrin &/or keratin in the plug(表皮與滲出物較多) Clear identification is impossible; there is overlap.
LABORATORY TESTS
What laboratory evaluations should be checked?	DM: fasting blood glucose; glucose tolerance test; CKD: serum creatinine; glomerular filtration rate or creatinine clearance Hepatic insufficiency: liver function tests Serum uric acid & thyroid function tests.(有些病人的病灶中有尿酸結晶；甲狀腺亢進會癢)
What associations should be checked?	Chronic kidney disease, Diabetes mellitus (insulin-dependent & noninsulin-dependent), Scabies
DIFFERENTIAL DIAGNOSIS
What disease is most difficult to differentiate from APDs?	Prurigo nodularis
What disease is most similar  to AEPS?	Perforating pseudoxanthoma elasticum
What are the differential diagnoses of APDs?	Hyperkeratotic papules 1.          Multiple keratoacanthomas (Ferguson-Smith familial keratoacanthomas, Grzybowski eruptive keratoacanthomas) 2.          Prurigo nodularis Annular papules 1.          Porokeratosis (also hyperkeratotic) 2.          Sarcoidosis 3.          Actinic granuloma (annular elastolytic giant cell granuloma) Perforating folliculitis: follicullar plug 1.          Discoid lupus erythematous 2.          Flegel disease (hyperkeratosis follicularis perstans) 3.          Folliculitis (bacterial, yeast) 4.          Keratosis follicularis (Darier disease) 5.          Keratosis pilaris Koebner phenomenon 1.          Psoriasis Itchy papules 1.          Lichen planus 2.          Arthropod bites 3.          Scabies Disease with perforating fearutes 1.          Perforating granuloma annulare 2.          Perforating periumbilical calcific elastosis 3.          Perforating pseudoxanthoma elasticum
CLINICAL COURSE, PROGNOSIS, AND MANAGEMENT
COMPLICATIONS
What are the complications of APD?	1.          S/S arise from underlying systemic illnesses (DM/CKD/hepatic insufficiency…). 2.          Secondary infections 3.          Irritant or allergic contact dermatitis. 4.          Darker-skinned: postinflammatory pigmentary alteration & scarring
PROGNOSIS
What condition is linked to the severity of APDs?	The severity of underlying diseases. (Most cases of APD continue for years unless treated)
MANAGEMENT
What are the common therapies to treat most APDs?	Topical & oral retinoids, topical & IL corticosteroids, & UVB
How to treat the APD in CKD?	Changing the type of dialysis tubing, modification of the dialysis procedure, renal transplantation.
How to treat the APD in uremia?	Phototherapy(BBUVB, NBUVB, PUVA)
What are the effective topical agents for APDs other than corticosteroids?	Topical retinoids, imiquimod, phenol (Sorbolene cream), capsaicin.
What are the effective systemic agents for APDs other than corticosteroids?	1.          Allopurinol (in cases of↑or normal uric acid) 2.          Retinoids (isotretinoin, acitretin) 3.          Antibiotics (doxycycline, clindamycin, metronidazole) 4.          Hydroxychloroquine
What are the effective physical modalities for APDs other than phototherapy?	TENS(transcutaneous electrical nerve stimulation), CO2 laser, liquid N2, surgical debridement.