Two Cases of Autosomal Recessive Congenital Ichthyosis due to CYP4F22 Mutations: Expanding the Genotype of Self-Healing Collodion Baby.

Collodion babies are born with a tight, shiny cast that sheds in a few weeks. After shedding, most patients will display features of autosomal recessive congenital ichthyosis (ARCI) later in life but in up to 10% of cases, the skin eventually becomes normal or only minimally involved, a phenotype called self-healing collodion baby (SHCB), which is considered as ARCI subtype in the 2010 consensus classification of congenital ichthyosis. The term self-improving collodion ichthyosis (SICI) has been proposed for these patients. SHCB/SICI was initially associated with mutations in the gene TGM1. However, some cases showing ALOX12B and ALOXE3 gene mutations have also been reported. We report two cases of SHCB/SICI showing homozygous mutations in the gene CYP4F22.

Acral erythema worsened by intravenous infusions of cyclosporin.

Acral erythema is a frequent cutaneous reaction related to chemotherapy. A patient presented herein developed acral erythema related to cytosine arabinoside treatment and then graft versus host disease (GVHD). Subsequently, worsening of palmar erythema and pain occurred with intravenous cyclosporin infusions.

Dyschromia related to severe combined immunodeficiency.

Severe combined immunodeficiency includes a group of diseases characterized by different inherited immunological defects. A 4-month-old girl diagnosed with Omenn syndrome, a subtype of severe combined immunodeficiency presenting with generalized erythroderma, was referred to our hospital for an allogeneic stem cell transplantation. Days before transplantation, she developed hyperpigmented macules that increased in number in the following months. As the erythroderma resolved after transplantation, diffuse hypopigmentation was simultaneously noted together with the expansion of hyperpigmented lesions. Cutaneous biopsy samples were taken at different moments, showing features of Omenn syndrome at first, and 2 months later changes consistent with hypopigmentation and repigmentation were observed. Although pigmentary disorders are rarely described in this context, these must be taken into account as a possible alternative diagnosis to graft-versus-host disease and toxicoderma in immunosuppressed patients.

Cutaneous emboli of atrial myxoma: unusual case report and review of the literature.

Cardiac myxomas are difficult to diagnose, not only because of a lack of specific systemic symptoms but also because, even in those cases presenting with embolic disease, emboli are exceptional. The skin is one of the organs most frequently involved by myxomatous emboli. We report an extraordinary case in which emboli of a cardiac myxoma was present in the skin biopsy, but "camouflaged" among the normal Vater-Pacini corpuscles of the palm of the hand, We also review the existing literature on myxomatous emboli identified in skin biopsies.

Lesiones Purpúricas en dorso nasal, pabellones auriculares y dedos / Purpuric lesions in the nasal dorsum, ears and fingers

Presentamos el caso de un paciente con lesiones purpúricas en regiones acrales. El diagnóstico diferencial de este tipo de lesiones incluye patologías muy variadas, por lo que debe remitirse al paciente de forma urgente/preferente para valoración por un dermatólogo. Se debe realizar un estudio completo que debe incluir analítica con perfil inmunológico y biopsia cutánea. En poco tiempo las lesiones evolucionaron a la forma clínica típica de lupus discoide y respondieron de forma favorable al tratamiento instaurado (AU)

We report a patient with purpuric lesions at acral sites. The differential diagnosis of this type of lesion includes a wide variety diseases, so every patient must be urgently/preferentially referred for a dermatologic evaluation. A complete study must be performed including a blood test with immunological parameters and a skin biopsy. In a very short time the lesions developed into the typical clinical form of discoid lupus, and responded favourably to treatment (AU)