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)
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What is the definition perforating
disorders?
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Transepidermal elimination of connective
tissue elements.
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What is the classification of perforating
disorders?
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Primary (1) familial (2) acquired
Secondary(come from other primary
dermatoses)
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What diseases may develop secondary perforating
disorders?
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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
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What are familial primary perforating
disorders(2)?
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Reactive perforating collagenosis(RPC)
& elastosis perforans serpiginosa(EPS).
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What are adult-onset acquired primary
perforating disorders(4)?
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1.
Kyrle disease (KD)
2.
acquired perforating
collagenosis(APC)
3.
perforating folliculitis
4.
acquired elastosis perforans
serpiginosa (AEPS)
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What is the umbrella designation of
acquired primary perforating disorder?
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Acquired perforating dermatosis (APD),
including KD, APC, perforating folliculitis, & AEPS
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CLINICAL FEATURES
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What is the clinical features of APD?
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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)
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What is the special distributions of APD?
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Linear distribution & follicular-based
distribution(perforating folliculitis)
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Why does the APD lesions arise in a line?
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It is caused by scratching & koebnerization
(it might have pain and pruritus)
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What is the clinical features of EPS?
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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)
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What is the most common cause of acquired
EPS(AEPS)?
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D-penicillamine which is taken for Wilson
disease & other diseases, (rare)chronic kidney disease.
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What is the clinical features of reactive
perforating collagenosis (NOT APC)?
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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
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What are the associations of adult-onset nonfamilial /acquired
primary lesions?
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1.
Chronic kidney disease (undergoing
dialysis & renal transplants)
2.
Diabetes mellitus (diabetic
nephropathy)
3.
The healthy with no known
associated illnesses
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What disease is most similar to APD?
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Prurigo nodularis
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How about the relationship between APD
& associated diseases?
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Parallels systemic diseases: KD, APC
Waxing-&-waning course, unassociated
with systemic diseases: perforating folliculitis
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What drug may be associated with APD?
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TNF-α inhibitors, indinavir, & sorafenib.
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What inborn diseases may be associated
with APD?
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Down syn. & Ehlers-Danlos syn.,
Marfan syn., osteogenesis imperfecta, scleroderma, & pseudoxanthoma
elasticum (MED SOP醫療ＳＯＰ)
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What is the ranking of age of onset?
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KD/APD(4th
decade)>perforating folliculitis(3rd decade)> AEPS(3rd
decade)
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Where is the site of perforating
folliculitis?
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Hair-bearing portions of extremities.
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Where is the site of KD/APC?
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Extensor of limbs, head, neck, &
trunk
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Where is the site of AEPS?
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Nape, face,
& limbs
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What is the clinical findings of AEPS?
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Papules in
serpiginous configuration + central atrophy
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What is the associations of KD/APC?
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Renal
failure/hemodialysis, DM, & hepatic insufficiency (腎糖肝)
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What is the associations of perforating
folliculititis?
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Idiopathic,
minor with renal failure/hemodialysis(腎糖)
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What is the associations of AEPS?
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Down syn.,
Ehlers-Danlos syn., oestogenesis imperfecta, pseudoxanthoma elasticum, minor
with renal failure (MED SOP不含Ｍ＆Ｓ)
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What type of APDs has Koebner phenomenon?
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KD/APC,
AEPS(occasionally)
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ETIOLOGY AND PATHOGENESIS
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What is the relationship of perforating
folliculitis, APD, & KD?
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They are in a disease spectrum or
different stages in lesional development(folliculitis→APD→KD ).
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What might be the primary disorder of
perforating folliculitis?
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Infectious folliculitis, such as
Pityrosporum folliculitis.
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What is the most important mechanism of
APD?
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Pruritus → manipulation/trauma
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What is the role of DM in the mechanism
of APD? (3)
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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
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What are the other mechanisms of
APD?
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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.
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What is the possible mechanisms of EPS
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1.
↑elastin receptors(both familial & acquired)
2.
Penicillamine→“bramble
bush–appearing” elastic fibers
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DIAGNOSIS
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HISTOPATHOLOGY
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What are the pathological features of
APD?
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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
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What is the pathological difference
between APDs?
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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.
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LABORATORY TESTS
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What laboratory evaluations should be
checked?
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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)
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What associations should be checked?
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Chronic kidney disease, Diabetes mellitus
(insulin-dependent & noninsulin-dependent), Scabies
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DIFFERENTIAL DIAGNOSIS
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What disease is most difficult to
differentiate from APDs?
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Prurigo nodularis
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What disease is most similar to AEPS?
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Perforating pseudoxanthoma elasticum
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What are the differential diagnoses of
APDs?
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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
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CLINICAL COURSE, PROGNOSIS, AND
MANAGEMENT
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COMPLICATIONS
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What are the complications of APD?
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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
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PROGNOSIS
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What condition is linked to the severity
of APDs?
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The severity of underlying diseases.
(Most cases of APD continue for years unless treated)
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MANAGEMENT
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What are the common therapies to treat
most APDs?
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Topical & oral retinoids, topical
& IL corticosteroids, & UVB
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How to treat the APD in CKD?
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Changing the type of dialysis tubing,
modification of the dialysis procedure, renal transplantation.
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How to treat the APD in uremia?
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Phototherapy(BBUVB, NBUVB, PUVA)
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What are the effective topical agents for
APDs other than corticosteroids?
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Topical retinoids, imiquimod, phenol
(Sorbolene cream), capsaicin.
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What are the effective systemic agents
for APDs other than corticosteroids?
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1.
Allopurinol (in cases of↑or normal uric acid)
2.
Retinoids (isotretinoin,
acitretin)
3.
Antibiotics (doxycycline,
clindamycin, metronidazole)
4.
Hydroxychloroquine
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What are the effective physical
modalities for APDs other than phototherapy?
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TENS(transcutaneous electrical nerve
stimulation), CO2 laser, liquid N2, surgical debridement.
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