The word ichthyosis comes from the Greek word for
a fish.
ichthyosis : is a group of disorders that are
characterized by a persistent, non-inflammatory
scaling disorder of the skin surface.
It is caused by abnormality in keratinization and
exfoliation of the horny cell layer.
The ichthyoses are a clinically and genetically
heterogeneous group of skin disorders,
characterized by a diffuse, generally uniform and
persistent pattern of scaling without mucosal or
extracutaneous (except in ichthyosiform syndromes)
involvement.
Acquired ichthyosis is clinically indistinguishable
from hereditary ichthyosis; however, acquired
ichthyosis is associated with various systemic
diseases.
The appearance of ichthyosis in adulthood can
occur before or after the diagnosis of a systemic
condition.
cancer (especially lymphoma, Hodgkin disease,
non-Hodgkin lymphoma,mycosis
fungoides, myeloma, Kaposi sarcoma,
leiomyosarcoma & carcinomas of the
lung, breast, ovary & cervix)
sarcoidosis
leprosy
thyroid disease, hyperparathyroidism
nutritional disorders
chronic renal failure
bone marrow transplantation
HIV infection
Autoimmune diseases, including systemic lupus
erythematosus and dermatomyositis
certain medications has been linked to acquired
ichthyosis
nicotinic acid, triparanol,
butyrophenones, dixyrazine,
cimetidine, and clofazimine
Restrictive Dermopathy
24 cases Lethal, AR Prematurity, fixed facial expression,
micrognathia, mouth in “O” position Rigid and tense skin with erosions
and denudations & multiple joint contractures
Ichthyosis Linearis Circumflexa
Disorder of keratinization in which bizzare
migratory annular and polycyclic patches
occur
Leave no scarring or pigmentary changes.
Inheritance AR, patients are born
erythrodermic
fatal complications.
Chanarin-Dorfman Syndrome - Neutral Lipid Storage Disease
Ichthyosis, Myopathy
and lipid vacuoles ->
Impaired degradation
of triacylglycerol-
derived diacylglycerol
Dietary modulation of
fats aids in controlling
the diseaseLipid vacuoles in granulocytes and monocytes but not lymphocytes or erythrocytes
Ichthyosis Follicularis (IFAP Syndrome)
IFAP = Ichthyosis Follicularis, Alopecia,
Photophobia
Generalized spiny follicular lesions with xerosis
of non-follicular skin, striking alopecia.
M>F 5:1
X-linked recessive and AD forms reported
Sjogren-Larsson Syndrome
Fatty alcohol oxidoreductase deficiency
Infancy: generalized erythroderma, ichthyosis,
fine to large lamellar scaling
After Infancy: generalized darker scale without
erythema accentuated in flexures and lower
abdomen; spares central face.
CNS: MR, spastic diplegia with scissor gait
Eyes: atypical retinitis pigmentosa “glistening
dots” pattern-slit
Dental dysplasia
Tx: Low fat diet
•SJOGREN LARSSON SYNDROME - atypical retinitis pigmentosa “glistening dots” pattern on slit lamp exam.
Refsum’s Syndrome
Phytanol-CoA hydroxylase deficiency
Leads to phytanic acid deposition in…
Skin (ichthyosis)
CNS (ataxia, peripheral neuropathy)
Eyes (retininitis pigmentosa “salt & pepper”)
Ears (deafness)
Cardiac (arrhythmias, block, CHF)
Musculoskeletal (wasting, skeletal
anomalies)
TX: dietary restriction of phytanic acid.
BIDS
Brittleness of hair d/t sulfur def Impairment of intelligence Decreased fertility Short stature
K/a Trichothiodystrophy
PIBIDS
AR inheritance P stands for Photosensitivity Defect in DNA repair Similar to cockayane syndrome &
xeroderma pigmentosum
Leathery verrucous plaques Nails may be dystrophic Eye brows and eye lashes absent Partial anhidrosis Hypotrichosis A/w Mucocutaneous candidiasis.
CHILD syndrome
Cong Hemidysplasia Ichthyosiform erythroderma Limb defects Present at birth,females affected Ichthyosis confined to one half of body
& ipsilateral hypoplasia of bony structures and brain.
CHIME syndrome
AR,first in 1983 identified Ocular COLOBOMAS Congenital HEART disease Migratory ICHTHYOSIFORM
Dermatosis Mental Retardation Epilepsy
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