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© 2003 European Academy of Dermatology and Venereology

CASE REPOR T

JEADV

(2003)

17

, 554–555

Blackwell Science, Ltd

Recalcitrant psoriasis vulgaris associated with Laurence–Moon–Biedl syndrome

L

Margolin,* Y

Haliulin

Department of Dermatology, Rabin Medical Center, Beilinson Campus, Petah Tiqva, Israel.

*

Corresponding author, E-mail: leon3087@yahoo.com

ABSTRACT

We report a 30-year-old European (Ashkenazi Jewish) male with Laurence–Moon–Biedl syndrome (Bardet–Biedl type) who was hospitalized because of severe recalcitrant plaque-type psoriasis. Laurence–Moon–Biedlsyndrome has been shown to be linked to the chromosome 11q region in the majority of the patients ofEuropean descent. The same 11q region had increased frequency of aberrations in the study that includedcytogenetic analysis of 477 psoriatic patients. The animal model of the syndrome (mice) showed abnormal-ities in hair growth and epidermal differentiation. This genetic association between Laurence–Moon–Biedlsyndrome and psoriasis can contribute to the understanding of the factors involved in the initiation ofpsoriasis and factors that modulate its severity and resistance to therapy.

Key words:

chromosome 11q, heredity, Laurence–Moon–Biedl syndrome, psoriasis

Received: 7 January 2002, accepted 15 May 2002

Introduction

Laurence–Moon–Biedl syndrome is an extremely rare autosomal

disorder. The major phenotypic findings that characterize the

Bardet–Biedl type of the syndrome include polydactyly, retinal

dystrophy, obesity and male hypogenitalism. The animal model

of the syndrome (mice) showed abnormalities in hair growth

and epidermal differentiation.

1

Although Bardet–Biedl syndrome (BBS) has been shown to

be a genetically heterogeneous disorder,

2

recently the syndrome

has been shown to be linked to the chromosome 11q13 region

in the majority of patients of European origin.

3,4

The heredity of psoriasis is polygenic. Genetic studies pub-

lished so far have shown a complex genetic inheritance with

heterogeneity and a putative major susceptibility locus in the

HLA region on chromosome 6.

5

A study that included cyto-

genetic analysis of 477 psoriatic patients revealed an increased fre-

quency of aberrations involving chromosome region 11q. Some

of these were balanced translocations that had a breakpoint in

the same q12–13 locus.

6

We present the first case report of Laurence–Moon–Biedl

(Bardet–Biedl type) syndrome in a patient with a severe skin

disorder (recalcitrant severe plaque-type psoriasis vulgaris).

The coexistence of Laurence–Moon–Biedl syndrome could be

more than a coincidence.

Case report

A 30-year-old Ashkenazi Jewish male of European origin who

had Laurence–Moon–Biedl syndrome (Bardet–Biedl type) with

polydactyly, retinal dystrophy, obesity and male hypogenitalism,

was hospitalized because of severe recalcitrant psoriasis. The

patient had developed severe plaque-type psoriasis over the

majority of his body surface 15 years prior to hospitalization. His

past therapy included multiple courses of psoralen + ultraviolet

A and local therapy with anthralin, keratolytics and steroids,

with very limited success. Psoriasis in this case was characterized

by an unusual resistance to the treatments applied and by rapid

relapses. No arthritis has been reported. Methotrexate and

acitretin were not used because of his severe hyperlipidaemia

and fatty liver.

Examination of his skin revealed thick, scaled, red plaques

over the majority of his body with pitting and oil spots over the

nails. Physical examination was unremarkable except for the

above-mentioned morphological abnormalities. His complete

blood count chemistry blood tests were within normal limits

(except for hypercholesterolaemia).

The patient was treated with Topicorten-tar (flumetha-

sone pivalate 0.02%, coal tar 1.5% and salicylic acid 1%) occlu-

sive dressings that resulted in minimal improvement of the

plaques.

Recalcitrant psoriasis vulgaris and Laurence–Moon–Biedl syndrome

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© 2003 European Academy of Dermatology and Venereology

JEADV

(2003)

17

, 554–555

Discussion

To the best of our knowledge, this is the first case of a patient

with Laurence–Moon–Biedl syndrome who had a severe skin

disorder (recalcitrant severe plaque-type psoriasis vulgaris).

The linkage of the syndrome to chromosome region 11q that

revealed an increased frequency of aberrations in the cyto-

genetic analysis of 477 psoriatic patients (some of these aberra-

tions were balanced translocations that had a breakpoint in the

same q12–13 locus

5

could be more than a coincidence. This

assumption is strengthened by the fact that an animal model of

the syndrome (mice) showed abnormalities in hair growth and

epidermal differentiation.

1

The aberrations in that region could

interfere with the regulation and expression of certain genes

located nearby, such as CD59. Expression of CD59 is drastically

decreased in psoriatic lesions, presumably due to a cleavage

involving signal transduction mechanism(s) leading to in-

creased proliferation of various cell types in lesional skin.

6

We are aware that psoriasis is a frequent multigenic disease

and a sporadic trigger for its development in our patient could

not be ruled out. On the other hand, the strong genetic associ-

ation between the two diseases, confirmed by the skin changes

in the animal model of the syndrome, should not be seen as

coincidental. The chromosome region to which the syndrome

is linked can contribute to the severity of psoriasis and its

resistance to therapy via the impairment of CD59 gene or to

other factors. This genetic association could contribute to the

understanding of the factors involved in the initiation of psoriasis

and factors that modulate its severity and resistance to therapy.

Clinical and basic research of the issue is advocated.

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