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CASE REPORT

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

Incontinentia Pigmenti In A Male Newborn- A Rare Presentation

Reeta Gupta (Sood), Cheena Langer, Anita Singh*, Rohan Sood

Incontinentia Pigmenti, also known as Bloch Sulzbergersyndrome, is a neurocutaneous syndrome withneurological, ophthalmological and dental manifestations.It is a rare, X-linked inherited syndrome, so primarilyreported in female infants and is usually fatal in males(1). So, identification of this syndrome in males is valuablebecause of its rarity. Approximately 900 to 1200 affectedindividuals had been reported, out of which only 60 caseswere that of males (2).This is a case report of a maleneonate born in our hospital who developed vesiculareruptions along the blaschko lines within few hours ofbirth, clinically diagnosed as a case of IP, confirmedhistopathologically later on.

Case ReportA full term male baby, first in order, born to non

consangious parents, with an uneventful normal vaginaldelivery in our hospital. Apgar score of the baby was 8/10 after 1minute and 10/10 after 5minutes.Anthropometryrevealed weight 3kg, length 47cms and head

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

Key WordsIncontinentia Pigmenti, Male, X-linked dominant

Introduction

circumference 34cms. The baby had a large blister onlower end of left side of neck at birth, later developederythema followed by vesiculo- bullous eruptions, filledwith clear fluid along the blaschko lines on the same sideof back and left upper arm within few hours of birth.Lesions were followed by crusted plaques which onfollow up showed healing with hypopigmentation and slightatrophy at the sites over a period of 12 weeks. Noneurological, ophthalmological, nail or hair disorder wasassociated at birth or on follow up at 12 weeks of age.There was no family history of similar complaints. Allthe baseline investigations were normal except totalleucocyte count which was about 13000/cu mm withraised eosinophils and raised C reactive proteins done bylatex fixation test. Serum Ig E levels were 43.32IU/ml.To rule out syphilis VDRL tests of mother and baby weredone which were found to be non reactive. Tzanck smearof blister fluid was prepared to see any acantholytic cellsto rule out pemphigus neonatorum and it didnot reveal

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Fig 1. Normal Healthy Male Infant From Front

anything abnormal. Skin biopsy taken from vesicle onthe back showed subcorneal bulla with keratotic anddyskeratotic cells in it. Dermis shows periappendagealand perivascular inflammatory infiltrate containingeosinophils consistent with IP.Discussion

The name IP defines a non specific histological featurein which there is melanin incontinence of melanocytes inthe basal layer of the superficial dermis (3). The IP genehas been mapped to Xq28, which encodes Nuclear FactorBeta Essential Modulator (NEMO). It is a rare hereditarysyndrome in which vesicular, verrucous and pigmentedskin lesions are associated with developmental defectsof eye, teeth and central nervous system (4). Skinmanifestations may appear at birth or within neonatalperiod. In 90% of all the reported cases, the lesions canbe observed within first 2 weeks of life. Skin lesions arecharacterised by 4 phases - vesicular, verrucous,hyperpigmentation and atrophy. These phases may varyand overlap in terms of their sequences and duration (5).In the first phase, the patient develops erythema followedby vesicles or pustules, may involve any part of body,

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

Fig 4. At 12 Weeks of Life Showing Healing With Hypopigmentation and Slight Atrophy

Fig 5 a&b. Histopathology of Skin Biopsy Taken from Vesicle on Back Showing Subcorneal Split & Eosinophil collectionusually form linear pattern on limbs and circular patternon trunk. This phase disappears around the fourth month(3). The second phase is verrucous phase which followsvesicular phase, seen in 70% of cases. This phase longsfor several weeks, then lesions become lighter in colourat around 6 months in 80% of cases(6). This phase rarely

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References

1. Gupta KD, Padhiar BB, Karia UK, Shah BJ. Case Reportsof Incontinentia Pigmenti in Males. Indian J Dermatol 2013;58(4): 328

2. Mini? S, Novotnyt GE, Medenica L, Obradovi? M,Stefanovi? B, Trpina? D. Two male patients withincontinentia pigmenti. Vojnosanit Pregl 2010;67(2):183-6.

3. Landy SJ1, Donnai D. Incontinentia pigmenti (Bloch-Sulzberger syndrome). J Med Genet 1993;30(1):53-9

4. Anstey AV. Incontinentia pigmenti. In: Burns T, BreathnachS, Cox N, Griffiths C, editors. Rook's Textbook ofDermatology. 8 th ed. Oxford, UK: Wiley-BlackwellPublishing; 2010.pp.58.15-7.

5. Succi IB, Rosman FC, Fontenelle E. Síndrome de Bloch-Sulzberger: incontinência pigmentar. An Bras Dermatol2011;86(3):601-10.

6. Berlin AL, Paller AS, Chan LS. Incontinentia pigmenti: Areview and update on molecular basis of pathophysiology.J Am Acad Dermatol 2002;47:169-87.

7. Lahari KD. Incontinentia pigmenti. Br J Dermatol1955;67:310-2.

8. Available at : Incontinentia pigmenti-eMedicine.medscape.com/article/1114205-overview.

affects the trunk as seen in our case also. The nextphase characterised by hyperpigmentation ranging fromblue-grey or slate to brown, affects 98% of cases. Thisphase usually disappears by second decade of life. Thelesions are circular or linear, follow the blaschko linesmay form the bizarre Chinese letter pattern (4). Theyare more seen on the trunk as seen in our case also. Thefourth phase is characterised by atrophic andhyperchromic linear lesions. These changes tend to bepermanent and are the only sign of skin involvement inadults (6). Cutaneous lesions may be associated withdefects of cutaneous appendages in the form of cicatricialalopecia or small and dystrophic nails(7). Otheraccompanied findings may include developmental defectsof eyes (cataract, uveitis, optic atrophy, strabismus,retrolental fibroplasia), teeth (delayed dentition, partialanodontia, cone or peg shaped teeth or absence of teeth),skeleton system (skull and palatal defects) and centralnervous system (epilepsy, microcephaly, mentalretardation and slow motor development) (6).Diagnostic criteria for incontinentia pigmenti include :

Major criteria: a) Typical neonatal vesicular rash witheosinophilia, b) typical blaschkoid hyperpigmentation onthe trunk, fading in adolescence and c) linear, atrophichairless lesions.

Minor criteria: a) Dental anomalies, b) alopecia, c)wooly hair and d) abnormal nails.

With a definitive family history, the presence of anymajor criterion strongly suggests the diagnosis of IP(8).In the absence of a family history, the presence of atleast first major criteria is necessary. The presence ofminor criteria supports the diagnosis of IP.

In our case, the baby was born with a blister on thelower end of left side of neck, further developed vesicleswithin few hours of life. Vesicles were preceded byerythema, typically following blaschko lines along the leftside of back and upper arm, followed by crusted plaquesand showed healing with hypopigmentation and slightatrophy over a period of 12 weeks. The baby wasotherwise normal with no involvement of hair, nail, eyes

or central nervous system. The physical and mentaldevelopment was consistent with age. In our case, inabsence of family history the presence of ist major criteriatypical blaschkoid vesicular rash with eosinophilia withchasracteristic histopathology confirmed the diagnosis.Usually no treatment is required other than control ofsecondary infection. Family counselling should be done.The baby was given symptomatic treatment. The parentswere made aware about possible absence of teeth ordelays in teething. Ophthalmic and neurologicalexamination of the baby was done, which revealed normalfindings.Conclusion

To conclude a strong suspicion of IncontinentiaPigmenti should be kept in mind in a baby who developsvesicular rash along the blaschko lines irrespective ofgender.