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Olmsted syndrome
1. Olmsted Syndrome:
A Re-evaluation of Standard
Combination
Nofal A., Nofal E., Yosef A., Eldesouky F., Gharib
K., Albalat W., Alakad R.
Faculty of Medicine, Zagazig University,
Dermatology Department, Egypt
2. It has been widely accepted that the
combination of PPK and periorificial
keratoderma represents the hallmark
for the diagnosis of Olmsted
syndrome.
Introduction
3. However, some cases with such a
combination were considered by their
authors as distinct entities or belong
to other genetic disorders.
.
Introduction
4. We present 8 cases of
nonmutilating PPK and periorificial
hyperkeratotic lesions, raising the
question; to what extent this
combination is a standard one?
Objectives
5. We described 8 patients presenting with
nonmutilating PPK and periorificial
keratoderma. The first two cases presented
by the classic features of pachyonychia
congenita (PC) type1.
Methods
6. One patient presented with the
classic features of Keratitis-
Ichthyosis-Deafness (KID) syndrome
and the last 5 cases were not
consistent with any of the well-
known genetic keratotic disorders.
Methods
7. All patients showed focal,
nonmutilating PPK and periorificial
hyperkeratotic erythematous plaques,
starting within the first year of life.
Results
8. Physical and mental milestones were
normal in all patients.
Histopathological examination of all
patients revealed a nonspecific
psoriasiform hyperplasia with
marked hyperkeratosis.
Results
50. we believe that the diagnosis of
Olmsted syndrome remains
essentially clinical.
Conclusion
51. The already described cases indicate
that the combination of
nonmutilating PPK and periorificial
keratoderma is not enough for the
diagnosis of Olmsted syndrome.
Conclusion
52. We propose that the mutilating
nature of PPK is essential for this
combination to be specific and
standard for Olmsted syndrome.
Conclusion
53. This restriction helps to define the
syndrome precisely and allows the
exclusion of closely similar disorders
that present with the same
combination, but without mutilation.
Conclusion
54. Conclusions
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