1. Elastic fibers are key components of connective tissue that provide resilience and elasticity to skin. Disorders impacting elastic fibers can produce changes in skin appearance and structure. 2. The document describes several such disorders, including pseudoxanthoma elasticum where elastic fibers are abnormally clumped and fragmented, and congenital cutis laxa where elastic fibers are sparse and fragmented leading to loose, inelastic skin. 3. Elastosis perforans serpiginosa is characterized by the extrusion of abnormal elastic fibers through the epidermis, often triggered by dermal irritation or D-penicillamine use.

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EELLAASSTTIICC TTIISSSSUUEE
• Elastic fibers are the principal components of
connective tissue that impart resilience and
elasticity to the skin.
• Mature elastic fibers in the reticular dermis
are composed of microfibrils (15% by weight,
containing fibrillins and microfibrilassociated
glycoproteins) that surround a core of
amorphous elastin (85% by weight, a single
polypeptide chain of 800 amino acids);
• The immature fibers seen in children have a
higher percentage of microfibrils (50% by
weight)

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CCuuttaanneeoouuss eellaassttiinn
• Cutaneous elastin and microfibrillar
glycoproteins are synthesized primarily by
fibroblasts.
• Elastin is initially secreted as tropoelastin,
which is crosslinked with and stabilized by
desmosine to form elastin. A critical enzyme
in this process is lysyl oxidase, a copper-dependent
enzyme that deaminates lysine to
form crosslinks in both elastic and collagen
fibers.

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• Elastin is metabolized by proteolytic enzymes,
including serine-type elastases, which are
secreted by neutrophils, macrophages, human
fibroblasts, and other types of cells.
• Elastic fibers are also degraded by matrix
metalloproteinases (MMPs), of which there are
at least 23 different enzymes secreted by a
variety of types of cells.
• The MMPs stromelysin, macrophage
metalloproteinase (MMP-12), the gelatinases •
(MMP- 2 and MMP-9), and matrilisin (MMP-7)
are the most active against elastic fibers

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HHiissttooppaatthhoollooggiicc OOrriieennttaattiioonn
• Elastic fibers of the papillary dermis are
oriented parallel (elaunin fibers) or
perpendicular (oxytalan) to the dermal-epidermal
junction and are thin and few in
number.
• Oxytalan fibers lack the elastin core., elaunin
fibers contain a small amount of elastin
• Mature elastic fibers are found predominantly
in the reticular dermis

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EEllaassttiicc TTiissssuuee ddiissoorrddeerrss
• Several disorders in which accumulation or
elastotic degeneration of dermal elastic fibers
produces prominent clinical and histopathologic
features have recently been described
• They include elastoderma, linear focal
elastosis, and late-onset focal dermal elastosis,
acquired pseudoxanthoma elasticum, elastosis
perforans serpiginosa, and Favre´-Racouchot
syndrome.

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9. Focal dermal elastosis.
A, Antecubital fossa showing multiple 1- to 3-mm diameter
discrete and coalescing yellow papules.
B, Thickened elastic fibers in the mid to deep reticular
dermis
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• Elastofibroma.
• A, Linear arrangement of globular, aggregated elastic
fibers (arrow). (Hematoxylin-eosin stain; original
magnification 320.)
• B, Elongated serrated elastic fibers

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13. Favre´-Racouchot syndrome
• Dilated follicular infundibula with small infundibular cysts
filled with lamellar keratin and lined b squamous
epithelium. Foci of solar elastosis are present in
the superficial dermis. (Hematoxylin-eosin stain)
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Papular elastorrhexis
• A, Back showing a 4-mm-diameter, well
demarcated white papule.
• B, Fragmentation of elastic fibers throughout the
dermis. (Elastic stain, original magnification
310).

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Anetoderma
• A, Flank showing multiple discrete saclike
bulging papules of the Schweninger-Buzzi type.
• C, Zone of elastolysis involving the papillary and
reticular dermis. (Elastic stain; original
magnification.)

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PSEUDOXANTHOMA
ELASTICUM
■ Incidence: 1 in 25,000 to 100,000
■ Autosomal recessive inheritance, occasional pseudo-dominant.
■ Mutations in multidrug resistance associated protein (MRP6),
encoded by (ABCC6) on chromosome 16q13.1.
■ Cutaneous features include yellow, flat,papules in the neck,
flexures, and periumbilical areas. Less frequent skin,lesions
include acneiform lesions, elastosis perforans serpiginosa,
reticulate pigmentation, and granulomatous nodules.
■ Extracutaneous manifestations include angioid streaks, visual
impairment, peau d’orange retinal hyperpigmentation,
cardiovascular disease, and bleeding.
■ Histopathology shows swollen, clumped, fragmented elastic
fibers and calcium deposits in the mid and deep reticular
dermis. Alterations easily visualized with calcium (i.e., von
Kossa) and elastic (i.e., Verhoeff-van Gieson or orcein) stains.

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• Pseudoxanthoma elasticum.
Papules on the neck. There is a distinct
yellowish hue. Loose, thickened skin with a
pebbled appearance on the neck.

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Pseudoxanthoma elasticum, elastic tissue stain.
The elastic fibers show marked degeneration.
They are swollen, tortuous, and irregularly
clumped.

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CONGENITAL
CUTIS LAXA
Inheritance may be autosomal dominant
autosomal recessive or X- linked recessive (also
known as occipital horn syndrome).
• Mutations in elastin (ELN) or fibulin-5 (FBLN5)
in autosomal dominant;
• In fibulin- 5 (FBLN5, EVEC, DANCE) or fibulin-4
(FBLN4) in autosomal recessive;
• A copper transport adenosine triphosphatase
(ATP7A) in the X-linked type.

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CONGENITAL
CUTIS LAXA
• Cutaneous features include pendulous, inelastic
skin, with an aged facies.
• ■ Extracutaneous manifestations may include
pulmonary emphysema, aortic aneurysm,
pulmonary artery and valve stenosis, hernias,
gastrointestinal diverticula, joint laxity, low serum
ceruloplasmin, and bilateral exostoses of the
occiput (or occipital horn syndrome).
■ Histopathology shows sparse and fragmented
elastic fibers, better visualized with stains (i.e.,
Verhoeff-van Gieson or orcein)

25. • Cutis laxa due to fibulin-4 mutation. The facial skin
hangs in loose folds giving the appearance of premature
aging. The prominent periorbital vessels.
• The tracheostomy was placed for diaphragmatic and
respiratory difficulty.
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28. Elastosis perforans serpiginosa
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ELASTOSIS PERFORANS
((SERPIGINOSA(EEPPSS
• Characterized by hyperkeratotic papules and
plaques, transepidermal elimination of abnormal
elastic fibers, and focal dermal elastosis
• it has been postulated that focal irritation
(biochemical or mechanical( in the dermis may
induce formation of epidermal and follicular
channels to extrude the irritating agent.
• In many cases, the trigger for elastogenesis is
unknown.
• D-Penicillamine therapy for Wilson disease,
cystinuria, and rheumatoid arthritis have been
associated with one
subtype of EPS.