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Korkmaz et al. Rare Dis Orphan Drugs J 2022;1:16 https://dx.doi.org/10.20517/rdodj.2022.26 Page 9 of 10

In the presence of lesions on the palms and soles, we diagnosed keratoderma. Given the coincidence of
absolutely identical lesions in the brother and sister, we only had to register the family history to reach the
diagnosis of “familial symmetrical palmo-plantar keratoderma”, a condition in every way analogous to that
observed by Ehlers on the island of Meleda, except for the endemic nature characterising the disease on that
island.

The lesions on the knees were initially suggestive of psoriasis: scratching reveals the “candle-wax sign”, but
without the other typical signs of psoriasis, and if we refer to the papers and descriptions of Ehlers and
Neumann, we see that they reported keratoses on the knees in Meleda’s disease: they are also reported over
the finger joints. The lesions that we have observed elsewhere than on the palms and soles do not refute our
diagnosis; they seem to be an essential part of the clinical picture.

Will the two cases we have just described clarify the aetiology of familial keratoderma?

The occurrence of consanguinity already reported in such a case is noteworthy; this condition does not
appear to be inherited or congenital.

Without evidence of chronic infection, syphilis can hardly be blamed for the appearance of these lesions.
The history and investigations raise no suspicions.

The boy with his lymphadenopathy and suppurating glands, with his lung mass visible on X-rays, is very
likely to have bacillary infection. However, his tuberculin test is negative and the lesions observed are not
characteristic of tuberculosis. The possibility of a tuberculous background would be interesting here, but
tuberculosis is not at all certain.

It is still necessary to consider endocrinopathy as a possible cause of this condition. Mr. Darier has already
drawn attention to the possibility of this etiology in such cases, and the somewhat unusual condition of the
skin, which is infiltrated especially in the girl’s thighs, is consistent with this hypothesis.

Finally, the striking coexistence of a dental disorder associated with skin lesions in these two children does
not rule out the possibility of an endocrine disorder, specifically a problem with the parathyroids in which
disordered calcium metabolism could explain the atrophic changes in the alveolar rim, tooth shedding and
dental disease.

We therefore conclude with the diagnosis of “symmetrical familial palmar and plantar keratoderma”
(Meleda’s disease). We would like to emphasize the interesting association with dental abnormalities
possibly due, like the skin lesions, to an endocrinopathy. We note the parental consanguinity. Finally, we
point out the palmoplantar hyperhidrosis, a major and early symptom for M. Lenglet.

M. DUBREUILH. - I think this is simply a case of palmar and plantar psoriasis.

M. DARIER. - Personally, I have no doubt that this is familial palmar and plantar keratoderma: the four
extremities are affected symmetrically; moreover, there is a limited keratotic spot on one knee, as is not
uncommon in such cases. The particular interest of this presentation is the dental disease in these children;
it suggests that familial keratoderma may well be due to endocrine disorders and suggests treating patients
with extracts of animal endocrine glands. Experience will show if this medication is useful.