ESPE2024 Poster Category 3 Multisystem Endocrine Disorders (11 abstracts)
Hypophosphaemic rickets, central precocious puberty and epidermic neavus syndrome.
Nadira Rouabah 1 , Hamza Rouabah 2 , Meriem Fellahi 1 , Assia Hassanine 1 , Mouna Messasset 1 & Belkacem Bioud 1
1Paediatrics Department, Setif University Hospital, Setif, Algeria. 2Epidemiology Department, Setif University Hospital, Setif, Algeria
Introduction: The association of multisystem pathologic conditions and epidermal nevi, known as the epidermal nevus syndrome, includes disorders of bone, central nervous system, eye, kidney, vasculature, body symmetry, and skin. Rarely hypophosphatemic trickets has been observed in association with this syndrome. Precocious puberty is another rare finding associated with epidermal nevus syndrome, having been observed in 1 patient.
Observation: A 22 months old boy conults for increase of the size of the penis.
Clinical examination:
height 78 cm < - 2 SDS
weight: 13 kg 0 SDS
TANNER stage: G3P2A1
Penile size: 7cm
A huge neavus affecting mainly the left hemicorpus and the right side of the neck and the whole head with areas of alopecia.
genu varum with intercondylar distance of 6 cm, inter malleolar distance of 4 cm and palpable epiphyseal bulges.
ogival palate and gingival hypertrophy.
AO: 2 years old in the carpus.
Biology: FSH: 1.28ui/l LH: 2.25 UI:L testosterone: 3.5ng/ml
Calcaemia: 97 mg/l Phosphaemia: 15.38 mg/l PAL: 2720IU/L
25OHD3: 30ng/ml phosphaturia: 245.87 mg/l
FGF23: in progress
Decapeptyl* test: central precocious puberty.
MRI of brain returned without abnormality.
Child treated with Decapeptyl 3.75 mg IM every 28 days, phosphoneuros and an alpha.
Conclusion: The association of epidermal nevus, hypophosphatemic rickets, central precocious puberty and alopecia is suggestive of this syndrome and need to be confirmed by genetic.
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