British Journal of Ophthalmology, 1978, 62, 622-626
Fundus changes in incontinentia pigmenti(Bloch-Sulzberger syndrome): a case reportR. B. JAIN AND G. S. WILLETTSFrom the Department of Ophthalmology, York District Hospital
SUMMARY A case of incontinentia pigmenti is reported with fundus changes in 1 eye. She hadmicroaneurysms temporal to the macula, with an abnormal branch of inferior temporal vein.There was extensive retinitis proliferans in the upper temporal equatorial region, which showedleakage on fluorescein angiography.
The ocular and systemic changes in incontinentiapigmenti are reviewed here and a case is reportedwith fundus changes which have not been describedpreviously.
Incontinentia pigmenti (IP) is characterised byectodermal defects, with occasional associatedmesodermal abnormalities. The typical skin lesionsare blue-grey to chocolate-brown arranged alongthe naevus lines of Blaschko. These occur on thetorso and the extremities. The disease can be dif-ferentiated into 2 clinical types: Bloch-Sulzbergerand Naegeli. The Bloch-Sulzberger syndrome occurspredominantly in females and is usually present atbirth. There is patchy, splash-like cutaneous pig-mentation with whorls and splotches of pigment.It is associated with frequent ocular changes,absence or malformations of the teeth, and alopecia.The Naegeli type occurs in both males and femalesand appears after 2 years of age. There is a reticulartype of pigmentation, sometimes associated withhypohidrosis, unhealthy and spotted teeth, andkeratosis of palms and soles.The ocular anomalies occur in about a quarter of
cases of Bloch-Sulzberger syndrome. They includecataract, uveitis, blue sclerae, conjunctival pigmenta-tion, strabismus, nystagmus, papillitis, optic atrophy,metastatic ophthalmitis, pseudoglioma, retrolentalfibroplasia, phthisis bulbi, and microphthalmos.
The patient was a female born on 14 April 1962 atfull term by normal delivery with a birth weight of
Address for reprints: G. S. Willetts, Department of Ophthal-mology, York District Hospital, Wigginton Road, YorkY03 7HE
6 lb 12 oz (3060 g). The pregnancy was uneventfuland the mother did not receive any medicationduring pregnancy. The patient has 4 siblings andthey are all healthy. At birth she was noticed to havereddened skin and blisters on legs and arms, andwhen 3 days old she was admitted to hospital witherythema and bullous eruptions involving scalp,ears, hard palate, forearms, buttocks, thighs, knees,and calves. By 9 days of age the lesions had extendedto the chest, and the patient became very toxic. Thegeneral condition started improving in the next 3weeks with nursing care. She was given severalcourses of antibiotics, as she was very susceptible toupper respiratory infections. The condition stabilisedby 3 months of age, and the lesions started becomingpigmented (Fig. 1). It was clinically diagnosed asepidermolysis bullosa, but the diagnosis waschanged to IP as pigmentation started. At the age of4 months skin biopsy established the diagnosis of IP.At present the patient has classical bizarre whorls
and streaks of pigmentation on the trunk and the leftgroin (Fig. 2). She is thinly built, with diffusealopecia and very sparse hairs on the scalp. She hasmarked dental anomalies, having only a few peggedteeth.
OCULAR HISTORYIn October 1973 she was found to have defectivevisual acuity in the right eye during a routine schoolmedical examination. Her visual acuity was 6/9 inthe right eye and 6/5 in the left eye. The right visionimproved to 6/5 with a small myopic correction.In April 1976 fundus changes were noticed in theright eye, and she was referred to the eye departmentof York District Hospital. She had no ocularsymptoms.On examination she was orthophoric and the
copyright. on 14 July 2018 by guest. P
Br J O
phthalmol: first published as 10.1136/bjo.62.9.622 on 1 S
eptember 1978. D
Fundus changes in incontinentia pigment (Bloch-Sulzberger syndrome): a case report
profuse leakage of dye, which persisted for morethan 10 minutes.
More than 200 cases of IP have been reported sinceits first description by Bloch in 1926. Most of thechildren are full-term normal deliveries. There is nodefinite hereditary pattern, though some hereditarycases have been reported-for example, it has been
.........X..described in a mother and her 2 daughters (Jackson2 ............ and Nigam, 1962). Sulzberger (1938) described a
case whose mother, sister, and niece suffered in
Fi.ki esinsa 3mntsofae.Blluteutin_BB _~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~.... ....,. ....,.....z__~~~~~~~~~~~~~~~~~~~~~.. ..4...........
onlowerlimbsand chest which havestarted.becoming
.. . . ..... . . . . . . . . ..~~~~~~~~~~~~~~~~~~~~~~~~~~..... ...:............:Fig ISkinlesiosandcet3 mont."hs of age. Bullous eruptions ;. lpigmented.
anterior segments were normal. Her visual acuity -was 6/5 in the left eye and 6/18 in the right eye ....,improving to 6 9 with -0.75D sphere. The left 2.fundus was normal. The right fundus was seen ,,(+,6,,,through clear media. There were a few micro- 2--aneurysms temporal to the macula. A venule just .'.*r'temporal to the macula and arising from the inferior v