Transcript Lipid proteinpsis

Lipoid proteinosis
Presented by:
Lale sayadi
851111638
Esfand 1390
Case:
(Monday 1390/12/15)
a 16 years old boy with hoarse cry from birth and
hoarseness remains throughout his life.Initially, an
inflammatory, vesicular, and crusted eruption
appears on the face and extremities at 4 years old.
Then verrucous papules and plaques arise the elbows,
knees, and hands.now he had pox-like scars on his
whole body.he has restricted motion in tongue. He
has not had seizure.he does not have any other
positive clue in examination .he has a younger
brother with same problems but milder than him.
Aks:
Dx:
lipoid proteinosis
(by biopsy+clinical presentations)
Definition:
Lipoid proteinosis is a rare,chronic and autosomal recessive
disorder that presents in early infancy with hoarseness,
followed by pox-like and acneiform scars, along with
infiltration and thickening of the skin and certain mucous
membranes.
Pathophysiology:
loss of function mutations in the gene encoding
extracellular matrix protein 1 (ECM1) on band 1q21 is
identified as the cause of lipoid proteinosis.
The ECM1 gene product is a glycoprotein with functional
roles in skin physiology and homeostasis. ECM1 is
involved in keratinocyte differentiation in the epidermis
and in regulation of basement membrane integrity,
interstitial collagen fibril macroassembly, and growth
factor binding in the dermis
Epidemiology:
Race:Patients of European ancestry are most commonly affected
Sex:No sex predilection is reported.
Age:Patients typically present in early childhood, but
manifestations may be present at birth. Some cases may occur
in adults
Mortality/Morbidity:Life span is usually normal unless
altered by complications. Mortality rates in infants and adults
are slightly increased because of laryngeal obstruction.
Frequency:
is listed as a "rare disease" by the 
Office of Rare Diseases (ORD) of the
National Institutes of Health (NIH).
Clinical manifestation:
The classic manifestation is onset in infancy with a hoarse cry due
to laryngeal infiltration
Cutaneous manifestations usually arise during the first 2 years of
life including:variably sized vesicles, pustules, bullae, and
hemorrhagic crusts. Resolution of the lesions occurs with
permanent, poxlike atrophic scarring.
Late findings are noted as the child ages; the skin develops a
waxy, thickened, yellowish appearance due to dermal
infiltration
Clinical manifestation(con…)
Skin: Papules, plaques, and nodules arise on the face,
axillae, and scrotum.
A pathognomonic sign is a row of beaded papules
along the eyelid margins, resembling a string of
pearls; this is termed moniliform blepharosis
Hyperkeratotic, verrucous plaques may arise in sites of trauma,
particularly the elbows, knees, and dorsum of the hands
Scalp:
patchy or diffuse hair loss.
Clinical manifestation(con…)
Oral cavity:
woody firmness and impaired mobilityof tongue.
Transient swelling and ulceration of the lips and tongue.
Pebbling of the lip mucosa imparts a cobblestone appearance
Hypoplasia or aplasia of the teeth.
Recurrent parotitis may occur as a consequence of infiltration of
the Stensen duct.
Clinical manifestation(con…)
Upper airway: Infiltration of the larynx, vocal cords, and
surrounding structures may produce hoarseness, dysphagia,and
airway obstruction
Central nervous system: A classic and pathognomonic 
radiographic finding is bilateral, intracranial, bean-shaped
suprasellar calcifications in the temporal lobe.
Tests :
Laboratory Studies:
No laboratory findings are consistently abnormal.
Increased ESR
Increased production of alpha- and beta-globulins
PCR of the ECM1 gene
Immunolabeling of affected tissue with polyclonal
antibodies against the ECM1 protein
Tests:
Imaging Studies:
A pathognomonic finding on plain radiographs
and CT scans of the brain is bilateral,
intracranial, bean-shaped calcifications within
the hippocampal region of the temporal
lobes.
Tests:
Skin biopsy of affected cutaneous or
mucosal sites
Histologic Findings:
Early lesions have eosinophilic hyaline thickening of papillary
dermal capillaries.
hyperkeratosis
papillary dermis is widened by hyaline material
Hyaline deposits may be arranged around the hair follicles, eccrine
glands, sebaceous glands, and arrector pili muscles and nerves
in an onionskin arrangement
Differential diagnosis:
Amyloidosis lichen
Amyloidosis, Nodular Localized Cutaneous
colloid milium 
Leprosy 
Lichen myxedematosus 
Xanthomas 
EPP 
Complications:
Laryngeal involvement may lead to airway obstruction.
Vocal cord involvement may lead to impaired speech.
Intracranial calcifications may result in seizures,
behavioral changes, rage attacks, and dystonia.
The deposition of hyaline in the small bowel is reported
to cause gastrointestinal bleeding.
pox-like and acneiform scars
Prognosis:
Lipoid proteinosis has a stable or slowly progressive
course.
The presence of this disease is compatible with a
normal life span unless altered by airway obstruction
or fatal seizure activity.
Treatment:
No cure is known
According some clinical trials:
D-penicillamine
oral dimethyl sulfoxide (DMSO )
potent topical corticosteroids
Etretinate
Seizures if present : anticonvulsant
Patient Education
The parents should be educated about
the risk of having affected offspring
The end