CASE 1

Dr Richa Tripathi
3rd Year Resident
MD Dermatology
NAMS
 Demographic details

10 years, female
Student

Chief complains
Generalised scaling since birth
Changes in eyelids, lips and distal
extremities since soon after birth
History of presenting complaints

Born encased in a translucent, yellowish,

glistening sheath
Membrane was shed in 7-10 days

No h/o normal skin

No seasonal variation
No h/o redness
Contd..
Upturning of eyelids
Upturning of lips Progressive
Stiffness of fingers

Normal vision
Decreased sweating
Intolerance to hot and cold climate
Contd..
No history of bulla
No recurrent infection/Atopy

Normal developmental milestones

Sibling/family members: not affected

History of consanguineous marriage

PHYSICAL
EXAMINATION
Photos:
Front and back
view of entire
body surface
covered with
thick, brown,
plate like scale
Photos showing hands and
feet deformities, nail
changes
Management
Diagnosis
Clinical
Microscopy of hair: normal
Treatment
Emollients
Eye care
DISCUSSION
Ichthyosis
..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
Classification
Congenital ichthyoses
Ichthyosis vulgaris (AD)
X-linked recessive ichthyosis [XR] (steroid sulphatase
deficiency)
Non-bullous ichthyosiform erythroderma (NBIE)
Bullous ichthyosiform erythroderma (syn. epidermolytic
hyperkeratosis) [BIE/EHK]
Lamellar ichthyosis
Harlequin ichthyosis
Ichthyosis bullosa of Siemens
Ichthyosis hystrix
Collodion baby
The term was first introduced by
Hallopeau and Watelet in 1892

Autosomal recessive congenital

ichthyosis (60%)1

Shedding of the collodion skin without

any further disorder of cornification
occur in 5% to 6% of all patients.1
1. Frenk E, De Techtermann F. Self-Healing Collodion Baby: Evidence for Autosomal
Recessive Inheritance. Pediatric Dermatology. 1992;9(2):95-7
Autosomal Recessive Congenital
Ichthyosis (ARCI)

ARCI include three types of ichthyosis,

and other ichthyosis syndromes2
The three types are:
Non bullous ichthyosiform erythroderma
Lamellar ichthyosis and
Harlequin ichthyosis

2. Akiyama M. Severe congenital ichthyosis of the neonate. International journal of

dermatology. 1998 Oct 1;37(10):722-8.
LAMELLAR
ICHTHYOSIS
Lamellar Ichthyosis
Incidence: approximately 1 in 300,000
live births.3

Collodion membrane at birth

Less intense erythroderma

3. Ozyurek H, Kavak A, Alper M. Lamellar ichthyosis: a case report. The Turkish journal of
pediatrics. 2002;44(1):58-60.
Molecular genetics & pathomechanism

To date, 7 loci have been identified,6

5 causative genes and molecules have
been detected:
TGM1,
ABCA12,
ALOXE3 and ALOX12B and
Ichthyin.

6.Akiyama M. Harlequin ichthyosis and other autosomal recessive congenital

ichthyoses: the underlying genetic defects and pathomechanisms. Journal of
dermatological science. 2006 May 31;42(2):83-9.
Normal intercellular lipid layers in
stratum corneum

6.Akiyama M. Harlequin ichthyosis and other autosomal recessive congenital

ichthyoses: the underlying genetic defects and pathomechanisms. Journal of
dermatological science. 2006 May 31;42(2):83-9.
 (b)Schematic diagram:
on loss of ABCA12 lipid
transporter function

(c) Schematic diagram:

on Transglutaminase
(TGase 1) enzyme
deficiency
Clinical features
Typical scales
Ectropion and eclabium are also
frequently seen, but they are mild,
compared with those observed in
harlequin ichthyosis.4

The hair and teeth appear normal

Secondary nail deformity and scarring
alopecia are sometimes observed.
4.Akiyama M, Sawamura D, Shimizu H. The clinical spectrum of nonbullous congenital
ichthyosiform erythroderma and lamellar ichthyosis. Clinical and experimental
dermatology. 2003 May 1;28(3):235-40
Severe forms
The thick, rigid scale is intermittently
shed or splits, causing erythematous
patches and deep, painful fissures,
especially around flexures and on the
digits, palms and soles

Limitation of joint movement, flexion

contractures and digital sclerodactyly
may result5
5.Judge MR, McLean WHI, Munro CS. Disorders of keratinization. In: Burns T, Breathnach
S, Cox N, Griffiths C, editor. Rooks Textbook of Dermatology. 8th ed. West Sussex:
Blackwell Publishing; 2010. p. 19.1-19.121.
Severe forms
Other features:
Palmoplantar keratoderma,
persistent ectropion and
congenital hypoplasia of aural and nasal
cartilages

Sweating: severely impaired

5.Judge MR, McLean WHI, Munro CS. Disorders of keratinization. In: Burns T,
Breathnach S, Cox N, Griffiths C, editor. Rooks Textbook of Dermatology. 8th ed. West
Sussex: Blackwell Publishing; 2010. p. 19.1-19.121.
Histopathology
Compact ortho-hyperkeratosis
Granular layer: normal or increased
Overall epidermal thickness: slightly
increased

Prominent cholesterol clefts or crystals in

the stratum corneum,
Lipid droplets in corneocytes and
A thin or absent cornified envelope
5.Judge MR, McLean WHI, Munro CS. Disorders of keratinization. In: Burns T, Breathnach
S, Cox N, Griffiths C, editor. Rooks Textbook of Dermatology. 8th ed. West Sussex:
Blackwell Publishing; 2010. p. 19.1-19.121.
Diagnosis
During the second stage, the aetiological
diagnostic approach consists6 of:
1)a good family history
2)A good clinical examination
3)Microscopic examination of the hairs,
histology of the skin and
4) Laboratory tests if indicated
(biochemical and metabolic screening,
mutation screening, etc)
6.Van Gysel D, Lijnen RL, Moekti SS, de Laat PC, Oranje AP. Collodion baby: a follow-up
study of 17 cases. Journal of the European Academy of Dermatology and
Venereology : JEADV. 2002;16(5):472-5.
Treatment
General measures
Moisturizing creams containing urea,
lactic acid and other humectants and
keratolytics
Regular bathing and mechanical scale
removal
Eye care
Oral therapy with retinoids

7. Oji V, Traupe H. Ichthyosis. American journal of clinical dermatology. 2009 Dec

1;10(6):351-64.
 Complications
Transepidermal water loss can be six to
seven times higher than that through
normal skin.8
fissures, skin infections, sepsis,
hypothermia,
conjunctivitis,
constrictive bands of the extremities
resulting in vascular compromise.9
8. Buyse L, Graves C, Marks R, Wijeyesekera K, Alfaham M, Finlay AY. Collodion baby dehydration:
the danger of high transepidermal water loss. The British journal of dermatology. 1993;129(1):86-
8.
9.Van Gysel D, Lijnen RL, Moekti SS, De Laat PC, Oranje AP. Collodion baby: a followup study of
17 cases. Journal of the European Academy of Dermatology and Venereology. 2002 Sep
Outcome

Skin manifestations seldom improve with

age
Extracutaneous symptoms have not
been reported and
Patients have a normal life span.4

4.
Akiyama M, Sawamura D, Shimizu H. The clinical spectrum of nonbullous congenital
ichthyosiform erythroderma and lamellar ichthyosis. Clinical and experimental
dermatology. 2003 May 1;28(3):235-40.
Prenatal diagnosis
DNA-based prenatal diagnosis by chorionic
villus or amniotic fluid sampling procedures
in the earlier stages of pregnancy is
possible due to understanding of causative
genetic defects

Successful prenatal diagnosis and prenatal

exclusion of LI by transglutaminase 1 gene
mutation analysis has been reported
10.Bichakjian CK, Nair RP, Wu WW, Goldberg S, Elder JT. Prenatal exclusion of lamellar
ichthyosis based on identification of two new mutations in the transglutaminase 1
gene. Journal of investigative dermatology. 1998 Feb 1;110(2):179-82.
Take home message
Most common outcome of collodion baby
are ARCI
Lamellar ichthyosis is one of the most
severe geneodermatoses
Severe LI does not improve with age
Improvement with oral retinoid therapy
Annex I