Keratitis-ichthyosis-deafness syndrome with lethal p.Ala88Val variant and severe hypercalcemia.

Keratitis-ichthyosis-deafness (KID) syndrome is a rare genetic disease caused by pathogenic variants in connexin 26 (gene GJB2), which is part of the transmembrane channels of the epithelia. Connexin 26 is expressed mainly in the cornea, the sensory epithelium of the inner ear, and in the skin keratinocytes, which are the three main target organs in KID syndrome. Approximately a dozen pathogenic variants have been described to date, including some lethal forms. Patients with lethal pathogenic variants present with severe symptoms from birth and die from sepsis during the first year of life. We present a premature female patient with KID syndrome carrying the lethal p.Ala88Val pathogenic variant in GJB2. In addition to the respiratory distress associated with this variant, our patient presented severe hypercalcemia of unexplained origin refractory to treatment. This abnormality has not been reported earlier in other patients with KID syndrome with the same variant.

Two Cases of Paradoxical Nonscarring Alopecia after Mesotherapy with Dutasteride.

Alopecia after mesotherapy with dutasteride is an extremely rare complication. Dutasteride is a second-generation 5a-reductase enzyme inhibitor that decreases serum dihydrotestosterone levels by 90%. It inhibits both type 1 and 2 enzymes, whereas finasteride inhibits only type 2. Mesotherapy with dutasteride is a novel treatment for hair fall which involves microinjection of the drug into the dermis with negligible systemic absorption. Frequent mild transitory side effects in the site of injection are described in medical literature, but few cases of secondary alopecia have been reported. This stands out given that mesotherapy is becoming such an increasingly common procedure with a great number of patients treated with this technique. We present 2 cases of patchy alopecia after mesotherapy with dutasteride in a male and a female with androgenetic alopecia. One of them developed skin atrophy on the affected areas without improvement at short term follow-up. These cases highlight the possible paradoxical side effects of mesotherapy as a therapeutic technique for hair loss.

Secondary hypereosinophilic syndrome: an unusual manifestation in a patient with syringotropic mycosis fungoides and human immunodeficiency virus infection.

Syringotropic mycosis fungoides is a very rare variant of cutaneous T-cell lymphomas characterised by prominent involvement of the eccrine glands. Hypereosinophilic syndrome refers to a rare group of conditions that are associated with persistent eosinophilia with organ involvement. It is classified into idiopathic, primary and secondary (reactive). We report herein an unusual case of hypereosinophilic syndrome with great impact on morbidity, which developed in a patient with human immunodeficiency virus infection and long-time misdiagnosed syringotropic mycosis fungoides.

Clinical and ultrasound response to intralesional sodium thiosulfate for the treatment of calcinosis cutis in the setting of systemic sclerosis. A case-based review.

Calcinosis cutis (CC) is defined as the deposition of calcium salts on the skin and subcutaneous tissue. It is associated with different conditions, including some autoimmune diseases, and it can generate significant inflammation, pain, and functional impairment. Different therapies have been tried with limited results. Intralesional sodium thiosulfate seems a promising therapeutic option. We report a patient with diffuse systemic sclerosis who presented with two symmetrical plaques on both axillae, which caused pain and skin retraction. The clinical diagnosis was consistent with CC, which was confirmed by skin biopsy and ultrasound. The patient was treated with a 250 mg/ml solution of sodium thiosulfate injected into the plaques. Complete resolution was achieved after three monthly sessions. The only reported adverse effect was a transient burning sensation during the injections. Given its effectiveness and safety, we believe that intralesional sodium thiosulfate could become a valid first-line option for the treatment of CC.