1. Dr Yugandar

2.  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.

3.  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.

5.  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.

7.  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

8.  nutritional disorders
 chronic renal failure
 bone marrow transplantation
 HIV infection
 Autoimmune diseases, including systemic lupus
erythematosus and dermatomyositis

9.  certain medications has been linked to acquired
ichthyosis
 nicotinic acid, triparanol,
 butyrophenones, dixyrazine,
 cimetidine, and clofazimine

10.  Histology:
 compact orthokeratosis and/
 parakeratosis without spongiosis

11.  24 cases
 Lethal, AR
 Prematurity, fixed facial
expression, micrognathia, mouth in “O”
position
 Rigid and tense skin with erosions and
denudations & multiple joint
contractures

12.  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.

13.  Most also have trichorrhexis invaginata
 May clear completely in summer time

15.  Ichthyosis, Myopathy
and lipid vacuoles ->
 Impaired degradation
of triacylglycerol-
derived diacylglycerol
 Dietary modulation of
fats aids in controlling
the disease Lipid vacuoles in granulocytes and monocytes
but not lymphocytes or erythrocytes

16.  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

17.  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.

18.  CNS: MR, spastic diplegia with scissor gait
 Eyes: atypical retinitis pigmentosa “glistening
dots” pattern-slit
 Dental dysplasia
 Tx: Low fat diet

19. •SJOGREN LARSSON SYNDROME - atypical retinitis pigmentosa “glistening dots”
pattern on slit lamp exam.

20.  Phytanol-CoA hydroxylase deficiency
 Leads to phytanic acid deposition in…
 Skin (ichthyosis)
 CNS (ataxia, peripheral neuropathy)

21.  Eyes (retininitis pigmentosa “salt & pepper”)
 Ears (deafness)
 Cardiac (arrhythmias, block, CHF)
 Musculoskeletal (wasting, skeletal
anomalies)
 TX: dietary restriction of phytanic acid.

22.  AR or X-linked
 Ichthyosis
 Hypogonadism
 Small stature

23.  MR, Epilepsy
 Macrocytic anemia
 Rule out Refsum’s Syndrome or Sjogren-
Larsson Syndrome

24.  Brittleness of hair d/t sulfur def
 Impairment of intelligence
 Decreased fertility
 Short stature
 K/a Trichothiodystrophy

25.  Some cases of BIDS a/w Lamellar
Ichthyosis
 I Stands for Ichthyosis

26.  AR inheritance
 P stands for Photosensitivity
 Defect in DNA repair
 Similar to cockayane syndrome &
xeroderma pigmentosum

27.  Keratitis
 Ichthyosis
 Deafness
DISTINCTIVE LEATHERY VERRUCOID
PLAQUES

28.  Leathery verrucous plaques
 Nails may be dystrophic
 Eye brows and eye lashes absent
 Partial anhidrosis
 Hypotrichosis
 A/w Mucocutaneous candidiasis.

29.  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.

30.  AR,first in 1983 identified
 Ocular COLOBOMAS
 Congenital HEART disease
 Migratory ICHTHYOSIFORM Dermatosis
 Mental Retardation
 Epilepsy

31. Thank You Very Much for
Attention
Have a Nice Day
Thank You
Very Much for
ur Attention