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Page 8 of 10 Korkmaz et al. Rare Dis Orphan Drugs J 2022;1:16 https://dx.doi.org/10.20517/rdodj.2022.26

No neurological disorders, normal tendon and ocular reflexes. No disorders of sensation, even within the
skin lesions.

The testes are of normal consistency and retracted, the right is larger than the left.

This child was born at term and breast-fed; he was sick and treated at the hospital in Ulm for a year, and he
was said to have had a left inguinal abscess at that time. It was around the age of 3 years that lesions
appeared on the palms and soles; at the same time he started to lose teeth. He has been totally edentulous
for two years. The child had mild rickets and did not walk until he was two years old. A tuberculin skin test
was negative. Bordet-Wassermann's blood test was negative.

The girl weighs 13.6 kg; she is better nourished, even quite fleshy, especially in the thighs, where it is
difficult to pinch the skin. She has significant sequelae of rickets: tibial curvature, slight beading of the ribs,
widened epiphyses; she currently has impetigo, especially marked on the scalp, but with some lesions
scattered on the trunk and on the left elbow, and impetigo is caused by louse infestation. Some inguinal
nodes. No epitrochlear nodes.

The general examination is negative.

Neither sugar nor albumin.

Tuberculin skin test, negative.

Bordet-Wassermann reaction, negative.

She was breast-fed, never sick and walked late. The skin lesions of palms and soles appeared at around 2
years of age, after they were noticed in her brother. According to the mother, the brother passed on these
lesions to his sister.

Family history

The parents of these two children are first cousins, they are healthy, and they have had 7 children: the eldest
is 10 years old, the youngest 5 months old.

Neither the parents nor their relatives nor the other children have skin or dental lesions like those observed
in the two children whom we present.

The other children are very healthy.

There has never been a miscarriage.

The two children that interest us were born in Ulm, one after the other, with no siblings between them.

The mother had no serious illnesses during her pregnancies with these two children.