<div>Introduction :</div><div>H Syndrome is an autosomal recessive genodermatosis due to mutation in
SLC29A3 with multisystem involvement. Skin lesions are characteristic
with hyperpigmentation, hypertrichosis and progressive skin sclerosis of
the lower part of the body. We report a new skin manifestation in the
face of a young girl with H Syndrome.</div><div>Case report :</div><div>A 12 year-old girl, born from consanguineous marriage, presented with a
5-year progressing bilateral symmetrical hyperpigmented and thickened
patches with hypertrichosis. These lesions were present in the inner
thighs as well as pubic and lumbar regions. On examination, she had
swelling with hyperpigmentation of labia majora, finger and toe flexion
contracture (camptodactily and hallux valgus) (Figure 1). She also had
been explored for hearing loss in the early childhood with hearing aids.
Ophtalmological examination showed chorioretinal atrophy. Biological
data showed low hemoglobin (9,5g/dl) and high erythrocyte sedimentation
rate (75mm/h). The rest of laboratory tests including thyroid function
tests, lipid profile, liver function tests, renal function tests and
antinuclear antibodies profile were all normal. Echocardiography and
electrocardiogram were normal. Abdominal ultrasound found small uterus
and ovaries with thickened skin and subcutis of vulva. Genetic analysis
revealed homozygous missense mutation c.1088G&gt;A ;
p.Arg363GIn in exon 6 in linkage disequilibrium with the same
non-pathogenic variant at intron 2 c.300+3A&gt;G. H Syndrome
was diagnosed based on histological, immunohistochemical (IHC)
examination and molecular analysis. Erythematous, annular and figurate
lesions slightly keratotic without atrophy was present in cheeks and
nose (Figure 2). Dermoscopy revealed multiple telangiectasias drawing a
reticulated network (Figure 3). Mycological test was negative. A 4-mm
punch biopsy showed perifollicular focal para-keratotic hyperkeratosis
of the epidermis. The dermis was slightly edematous and contain ectatic
capillaries. There was a lymphocytic and histiocytic infiltrate (Figure
4). IHC was positive for CD68 (Figure 5). The diagnoses of porokeratosis
of Mibelli and sub acute lupus erythematous were excluded. We concluded
in a clinical feature of H Syndrome.</div><div>Discussion :</div><div>A wide range of cutaneous lesions were reported in patients with H
Syndrome. Based on increased CD68+ histiocytes, this syndrome is
considered as a histiocytic disorder (non-Langerhans cell
histiocytosis). (1) (2) The commonest are hyperpigmentation,
hypertrichosis and skin induration involving especially lower limbs but
also other parts of the body including the face. (3,4) Authors described
less common facial manifestations. These features include : facial
telangiectasia (4) (2) (5), both hypo- and hyperpigmented lesions (6),
hirsutism (1), swollen cheeks due to subcutaneous infiltration (4) and
eczematous lesions (1).</div><div>Our case is particular. The girl had not only classic features of H
Syndrome but also additional manifestations. To our knowledge, annular
keratotic and figurate lesions of the face has not been described
before. The histiocyte CD68+ infiltrate indicates a novel phenotype of
the same pathologic process. Our patient presented gluteal lipodystrophy
with cutaneous and subcutaneous thickening which is a less frequent
feature in this syndrome (4). The reduced size of uterus and ovaries may
be secondary to the deep histiocyte infiltrate. Chorioretinal atrophy is
also an unusual ophtalmological abnormality.</div><div>Conclusion :</div><div>H Syndrome is a rare genodermatosis and approximately 100 cases had been
reported in the world. We describe a new facial phenotype with
dermoscopic and histological features in the spectrum of non-Langerhans
cell histiocytosis.</div><div>Author contribution:</div><div>RM and BM: wrote the manuscript. BE and SK: revised the manuscript. CS
and BT: wrote parts of the manuscript related to the histopathological
aspects of the disease. RM, BE, SK and TH: contributed to the management
of the patient and revised the article. CH: wrote parts of the
manuscript related to genetics. TH: critically reviewed the manuscript
and gave final approval. All authors have read and approved the final
manuscript and agree to take full responsibility for the integrity and
accuracy of the work.</div><div>References :</div><div>1. Bloom JL, Lin C, Imundo L, Guthery S, Stepenaskie S, Galambos C, et
al. H syndrome: 5 new cases from the United States with novel features
and responses to therapy. Pediatr Rheumatol Online J. 17 oct
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a multifaceted histiocytic disorder with hyperpigmentation and
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