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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 7 of 10

On the dorsal surface, there are small round scaly patches; on the right hand, they are situated in the thumb
web, over the second, third and fifth metacarpo-phalangeal joints and over the interphalangeal joints of the
second and fifth fingers. On the left hand, they are found over the first, second and fourth metacarpo-
phalangeal joints. Nothing on the nails.

On both knees: on the tibial tuberosities are two round plaques of the size and shape of a two-franc piece
with a distinctly psoriasiform appearance; scraping reveals the “candle-wax sign” as seen in psoriasis, but
there is no detachable scale or pinpoint bleeding. No similar lesions on the elbow.

Besides these skin lesions, these two children have extensive dental abnormalities that Mr. Ruppe has kindly
described to us.

The boy is completely edentulous, and resorption of the alveolar ridge is, like in adults, at the expense of the
external cortical bone plate for the upper jaw and at the expense of the internal cortical bone plate for the
lower jaw; so that the upper arch represented by the alveolar crest is actually imprinted in the lower arch.
The upper lip is retracted and the child looks very much like a toothless old woman. When palpating the
vestibular region, above the alveolar ridge, one feels the protrusion of the permanent dental follicles; the
eruption of the first molars is already over.

The girl retains her lower right lateral incisor, her lower right canine, her second right deciduous molar , left
lower lateral incisor, canine and second lower left molars, lateral incisor, canine, second right upper
deciduous molar, canine and two left upper deciduous molars; the impression given by these teeth, many of
which are decayed, is of a process of alveolar dental pyorrhea; the canines are exposed to a greater or lesser
extent, they are set in a fungating red mucosa and the teeth are loose.

The boy weighs 14.85 kg at 6 years old, which is below the normal weight for his age, and he is thin and pale
and in poor general condition. On the skin, in addition to the lesions mentioned above, he has pyoderma of
the left outer ear, and numerous plaques of cicatricial alopecia, secondary to impetigo.

There is very marked lymphadenopathy: cervical nodes, especially on the right, one of which has
suppurated as evidenced by a scar, bilateral submaxillary nodes, and small and mobile inguinal nodes. In the
left inguinal crease, there is a scar from a suppurating lymph node, brownish at the edges, depigmented in
the center, and elongated parallel to and below the inguinal ligament. No epitrochlear lymph nodes.

Examination of the lungs reveals nothing abnormal, other than a few bronchitic rattles.

However, radiological examination showed complete opacity of the left lung, but the axillary region was less
dense than the rest; at the base, there was considerable reduction of diaphragmatic movements and the mass
appeared lobulated.

Examination of the heart reveals nothing abnormal.

Liver and spleen of normal size.

No albumin or sugar in the urine.