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CASE REPORT

Incontinentia Pigmenti In A Male Newborn

- A Rare Presentation
Reeta Gupta (Sood), Cheena Langer, Anita Singh*, Rohan Sood

Abstract
Incontinentia Pigmenti (IP) is an X-linked dominant disorder, frequently affecting females and lethal in
males. Here, we report one case where a male developed vesicular eruptions along the blaschko lines on
his back within few hours of birth, clinically diagnosed as a case of incontinentia pigmenti, confirmed later
on with histopathological findings.

Key Words
Incontinentia Pigmenti, Male, X-linked dominant

Introduction
Incontinentia Pigmenti, also known as Bloch Sulzberger
syndrome, is a neurocutaneous syndrome with
neurological, ophthalmological and dental manifestations.
It is a rare, X-linked inherited syndrome, so primarily
reported in female infants and is usually fatal in males
(1). So, identification of this syndrome in males is valuable
because of its rarity. Approximately 900 to 1200 affected
individuals had been reported, out of which only 60 cases
were that of males (2).This is a case report of a male
neonate born in our hospital who developed vesicular
eruptions along the blaschko lines within few hours of
birth, clinically diagnosed as a case of IP, confirmed
histopathologically later on.
Case Report
A full term male baby, first in order, born to non
consangious parents, with an uneventful normal vaginal
delivery in our hospital. Apgar score of the baby was 8/
10 after 1minute and 10/10 after 5minutes.Anthropometry
revealed weight 3kg, length 47cms and head
circumference 34cms. The baby had a large blister on
lower end of left side of neck at birth, later developed
erythema followed by vesiculo- bullous eruptions, filled
with clear fluid along the blaschko lines on the same side
of back and left upper arm within few hours of birth.
Lesions were followed by crusted plaques which on
follow up showed healing with hypopigmentation and slight
atrophy at the sites over a period of 12 weeks. No
neurological, ophthalmological, nail or hair disorder was
associated at birth or on follow up at 12 weeks of age.
There was no family history of similar complaints. All
the baseline investigations were normal except total
leucocyte count which was about 13000/cu mm with
raised eosinophils and raised C reactive proteins done by
latex fixation test. Serum Ig E levels were 43.32IU/ml.
To rule out syphilis VDRL tests of mother and baby were
done which were found to be non reactive. Tzanck smear
of blister fluid was prepared to see any acantholytic cells
to rule out pemphigus neonatorum and it didnot reveal

From the Deptt. of Dermatology, Venerology & Leprology & *Pathology, ASCOMS, Sidhra, Jammu
Correspondence to : Dr Cheena Langer , Senior Resident Department of Dermatology, Venerology & Leprology ASCOMS, Sidhra, Jammu

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Fig 1. Normal Healthy Male Infant From Front Fig 2. At Presentation- Vesiculobullous Lesions Filled with
Clear Fluid with Erythematous Base, Following
Blaschko Lines on Left Back and Left Upper Arm

Fig 3. At 7 Days of Birth, Showing Crusting at the Sites

anything abnormal. Skin biopsy taken from vesicle on
the back showed subcorneal bulla with keratotic and Fig 4. At 12 Weeks of Life Showing Healing With
dyskeratotic cells in it. Dermis shows periappendageal Hypopigmentation and Slight Atrophy
and perivascular inflammatory infiltrate containing
eosinophils consistent with IP.
Discussion
The name IP defines a non specific histological feature
in which there is melanin incontinence of melanocytes in
the basal layer of the superficial dermis (3). The IP gene
has been mapped to Xq28, which encodes Nuclear Factor
Beta Essential Modulator (NEMO). It is a rare hereditary
syndrome in which vesicular, verrucous and pigmented
skin lesions are associated with developmental defects
of eye, teeth and central nervous system (4). Skin
Fig 5 a&b. Histopathology of Skin Biopsy Taken from
manifestations may appear at birth or within neonatal Vesicle on Back Showing Subcorneal Split &
period. In 90% of all the reported cases, the lesions can Eosinophil collection
be observed within first 2 weeks of life. Skin lesions are usually form linear pattern on limbs and circular pattern
characterised by 4 phases - vesicular, verrucous, on trunk. This phase disappears around the fourth month
hyperpigmentation and atrophy. These phases may vary (3). The second phase is verrucous phase which follows
and overlap in terms of their sequences and duration (5). vesicular phase, seen in 70% of cases. This phase longs
In the first phase, the patient develops erythema followed for several weeks, then lesions become lighter in colour
by vesicles or pustules, may involve any part of body, at around 6 months in 80% of cases(6). This phase rarely
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affects the trunk as seen in our case also. The next
phase characterised by hyperpigmentation ranging from
blue-grey or slate to brown, affects 98% of cases. This
phase usually disappears by second decade of life. The
lesions are circular or linear, follow the blaschko lines
may form the bizarre Chinese letter pattern (4). They
are more seen on the trunk as seen in our case also. The
fourth phase is characterised by atrophic and
hyperchromic linear lesions. These changes tend to be
permanent and are the only sign of skin involvement in
adults (6). Cutaneous lesions may be associated with
defects of cutaneous appendages in the form of cicatricial
alopecia or small and dystrophic nails(7). Other
accompanied findings may include developmental defects
of eyes (cataract, uveitis, optic atrophy, strabismus,
retrolental fibroplasia), teeth (delayed dentition, partial
anodontia, cone or peg shaped teeth or absence of teeth),
skeleton system (skull and palatal defects) and central
nervous system (epilepsy, microcephaly, mental
retardation and slow motor development) (6).
Diagnostic criteria for incontinentia pigmenti include :
Major criteria: a) Typical neonatal vesicular rash with
eosinophilia, b) typical blaschkoid hyperpigmentation on
the trunk, fading in adolescence and c) linear, atrophic
hairless lesions.
Minor criteria: a) Dental anomalies, b) alopecia, c)
wooly hair and d) abnormal nails.
With a definitive family history, the presence of any
major criterion strongly suggests the diagnosis of IP(8).
In the absence of a family history, the presence of at
least first major criteria is necessary. The presence of
minor criteria supports the diagnosis of IP.
In our case, the baby was born with a blister on the
lower end of left side of neck, further developed vesicles
within few hours of life. Vesicles were preceded by
erythema, typically following blaschko lines along the left
side of back and upper arm, followed by crusted plaques
and showed healing with hypopigmentation and slight
atrophy over a period of 12 weeks. The baby was
otherwise normal with no involvement of hair, nail, eyes
Vol. 16 No. 1, Jan -March 2014 www.jkscience.org
or central nervous system. The physical and mental
development was consistent with age. In our case, in
absence of family history the presence of ist major criteria
typical blaschkoid vesicular rash with eosinophilia with
chasracteristic histopathology confirmed the diagnosis.
Usually no treatment is required other than control of
secondary infection. Family counselling should be done.
The baby was given symptomatic treatment. The parents
were made aware about possible absence of teeth or
delays in teething. Ophthalmic and neurological
examination of the baby was done, which revealed normal
findings.
Conclusion
To conclude a strong suspicion of Incontinentia
Pigmenti should be kept in mind in a baby who develops
vesicular rash along the blaschko lines irrespective of
gender.
References
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3. Landy SJ1, Donnai D. Incontinentia pigmenti (Bloch-
Sulzberger syndrome). J Med Genet 1993;30(1):53-9
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