GARCIA

Objectives

 To identify the clinical picture
 To arrived at appropriate diagnosis and management
 To determine differential diagnosis
 Ehlers-Danlos Syndrome
 Pseudoxanthoma Elasticum
 Elastosis Perforans Sperginosa
 Reactive Perforating Collagenosis
 Xanthomas
 Fabry Disease
 Mucopolysaccharides
 Mastocytosis
 Ehlers-Danlos

group of genetically heterogeneous connective
tissue disorders
appear normal at birth, but skin hyperelasticity,
fragility of the skin and blood vessels, delayed
wound healing, and joint hypermobility develop
Additional features: autonomic dysfunction,
dysautonomic features, increased incidence of
Chiari type 1 malformations, pulmonary
complications
Cutaneous scar: atrophic cigarette-paper (prominent
on the forehead, lower legs & over pressure points)
 Differential Diagnosis

 Cutis laxa- skin hangs in redundant folds
 JHS
Pseudoxanthoma Elasticum

primary disorder of elastic tissue
mutations in the ABCC6 gene
Accumulation of mineralized tissue in the skin,
Bruch membrane in the retina, and vessel walls
 PXE Clinical Manifestations

 Pebbly, “plucked
chicken skin” cutaneous
lesions- 1-2mm,
asymptomatic, yellow
papules arranged in a
linear or reticular pattern
or I confluent plaques.
 Arterial involvement-
Adulthood
 Claudication and angina-
early Childhood.
 PXE Pathology

 Fragmented swollen,
clumped elastic fibers in
the middle and lower third
of the dermis
 (+) for calcium staining
 Reduced and small-split
fibers of collagen
 Aberrant calcification
narrowed vessel lumina
 PXE Treatment

No effective treatment
Laser therapy- may help prevent
retinal hemorrhage
Oral phosphate binders- shown
promise in decreasing
calcification of elastic fibers
Elastosis Perforans Serpiginosa

Characterized by the extrusion of altered
elastic fibers through the dermis
Primary abnormality: probably the dermal
elastin cellular response extrusion of
the abnormal elastic tissue
 EPS Manifestations

Unusual skin
disorder: 1-3mm,
firm, skin-colored,
keratotic papules
cluster I arcuate and
annular patterns in
the posterolateral
neck and limbs &
occasionally on face
& trunk
 EPS Histopathology

hyperplastic epidermis with extrusion
of abnormal elastic fibers and a
lymphocytic superficial infiltrate
 EPS Ddx & Treatment

tinea corporis, perforating granuloma
annulare, reactive perforating collagenosis,
lichen planus, creeping eruption, and
porokeratosis of Mibelli
the lesions are asymptomatic and may
disappear spontaneously
Reactive Perforating Collagenosis

Transepidermal elimination of altered collagen
Early childhood
 RPC Histology

 Collagen in the
papillary dermis is
engulfed within a cup-
shaped perforationn in
the epidermis.
The central crater
contains pyknotic
inflammatory cells
and keratinous debris.
 EPS Ddx & Treatment

EPS and Kyle disease
Tx: resolves spontaneously in 6-8
wk, topical retinoic acid enhances
the resolution
 Xanthomas

well circumscribed lesions in the connective
tissue of the skin, tendons or fasciae that
predominantly consist of foam cells
these specific cells are formed from
macrophages as a result of an excessive
uptake of low density lipoprotein (LDL)
particles and their oxidative modification


 Fabry Disease

X-linked inborn error of
glycosphingolipid
metabolism caused by
the absent or markedly
deficient activity of α-
galactosidase A (α-gal A)
Pain: most debilitating
symptom in childhood &
adolescence
Fabry crises
Tx: Enzyme Replacement
 Mucopolysaccharidoses

 hereditary, progressive diseases caused by mutations
of genes coding for lysosomal enzymes needed to
degrade GAGs (acid mucopolysaccharides)
 thick, rough, inelastic skin (extremities), & generalized
hirsutism are characteristic but nonspecific features
 Scheie and Morquio syndromes- Telangiectasias on the
face, forearms, trunk, and legs
 Hunter syndrome- ivory-colored, distinctive firm
papulonodules with a corrugated surface texture are
grouped into symmetric plaques on the upper trunk,
arms and thighs which occurs in the 1st deacde of life
and spontaneous disappearance has been observed

 Mastocytosis

solitary cutaneous nodules-diffuse infiltration of
skin associated with involvement of other organs
characterized by aggregates of mast cells in the
dermis
4 types:
 Solitary mastocytoma
 Urticaria pigmentosa- childhood variant
 Diffuse cutaneous mastocytosis
 Telangiectasia macularis eruptiva perstans
 Clinical Manifestations

 Solitary mastocytomas- 1-5cm in diameter;
 May be present at birth or may arise in early infancy at any
site
 may manifest as recurrent, evanescent wheals or bullae; in
time, an infiltrated, pink, yellow, or tan, rubbery plaque
develops at the site of whealing or blistering
 Surface- pebbly, orange peel–like texture, and
hyperpigmentation may become prominent.
 Darier sign- stroking or trauma urtication d/t local
histamine release
 Ddx: recurrent bullous impetigo, herpes simplex,
congenital melanocytic nevi & juvenile xanthogranulomma
 Clinical Manifestations

 Urticaria pigmentosa- MC form
 Ddx; drug eruptions, postinflammatory pigmentary change,
juvenile xanthogranuloma, pigmented nevi, ephelides,
xanthomas, chronic urticaria, insect bites, and bullous impetigo
1) Classic Infantile type: lesions may be present at birth but more
often erupt in crops in the 1st several mo to 2 yr of age; new lesions
seldom arise at 3-4 y/o
 Few mm-cm, macular, papular or
nodular
 Yellow-tan to chocolate brown and
often with ill-defined borders
 Larger nodular lesions: characteristic
orange peel texture
 Intense pruritus
 Flushing- MC symptom seen
 Clinical Manifestations

2) Chronic with SC factor mutations: may begin I infancy
but typically develops in adulthood;
- does NOT resolve and new lesions continue to develop
throughout life
- Systemic involvement may develop
 Clinical Manifestations

 Systemic Mastocytosis: marked by abnormal
increase in the number of mast cells in other than
cutaneous tissues
 Uncommon in children
 Silent bone lesions
 GIT involvement
 Hepatospenomegaly- result of mast cell infiltrates and
fibrosis
 Hematologic: anemia, leukocyotosis and eosinophilia
in 30%, mast cell leukemia may also occur
 Clinical Manifestations

 Diffuse Cutaneous Mastocytosis: characterized by
diffuse involvement of the skin rather than discrete
hyperpigmented lesions
 Usually normal at birth, demonstrate features after the 1st
few months of life
 Intense generalized pruritus in the absence of a visible skin
changes (rare)
 skin usually appears thickened and pink to yellow and may
have a doughy feel and a texture resembling an orange peel
 Systemic involvement is common: recurrent bullae,
intractable pruritus & flushing attacks
 Ddx: epidermolytic hyperkeratosis
 Clinical Manifestations

 Telangiectasia macularis eruptiva perstanns:
consists of telangiectatic hyperpigmented macules
that are usually localized to the trunk
 (-) Darier sign
 Primarily in adolescents and adults
 Ddx: other causes of telangiectasia
 Ddx

 Telangiectasia macularis eruptiva perstanns:
consists of telangiectatic hyperpigmented macules
that are usually localized to the trunk
 (-) Darier sign
 Primarily in adolescents and adults
 Prognosis

 solitary mastocytomas and classic infantile urticaria
pigmentosa- Spontaneous involution in all patients
 Systemic manifestations- very low incidence
 >4 y/o continued development of lesions- chronic
 Treatment

 Solitary mastocytoma- not required; topical steroids
 Urticaria pigmentosa- avoid triggers
 Symptomatic systemic- H1- recepptor antagonist
(Hydroxyzine): initial DOC, H2-R antagonist, topical
steroids, oral mast cell-tabilizers
 Diffuse cutaneous mastocytosis- same as UP;
Phototherapy wit narroow-band UV (UVB or UVA-
1) or psoralen with UVA to control symptoms
 Telangiectasia macularis eruptiva perstans-
cautious tx with vascular pulsed-eye lasers
REFERENCES: Nelson 20th Edition, DermNZ, NCBI

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