Aplasia cutis congenita (ACC) is a rare congenital condition characterised by the absence of skin, with or without the absence of underlying structures. Can appear as an isolated lesion or associated with other congenital malformations. The approach can be conservative or surgical.We report a case of a full-term male newborn with two adjacent ulcerated lesions with well-demarcated limits in the upper occipital region (20 and 4-5 mm diameter). Other alterations that could be associated with aplasia cutis were identified at examination, so the patient was referred to several consultations, and other system involvement was excluded. Re-evaluation at the first month of life revealed complete healing and conservative treatment was kept.After identification of ACC should be excluded other associated congenital malformations. Particularly if large skin defects or bone involvement is detected (higher risk of complications and mortality).

Objective: Primary adrenal insufficiency (PAI) is a rare condition in children, and is potentially life-threatening. The most common cause is congenital adrenal hyperplasia, and autoimmune etiology is the most frequent acquired cause in this age group. Symptoms are usually non-specific and, when suspected, investigation should include adrenocorticotropin hormone (ACTH) and morning serum cortisol measurement and, in some cases, a cosyntropin test to confirm the diagnosis. Prompt treatment is essential to prevent an adverse outcome. Methods: We retrospectively collected clinical and laboratory data from adrenal insufficiency due to autoimmune adrenalitis, observed from 2015 to 2020 in a pediatric endocrinology department of a tertiary care hospital. Results: Eight patients were identified, seven males and one female, with age at diagnosis between 14 and 17 years. The symptoms at presentation ranged from non-specific symptoms, such as chronic fatigue and weight loss, to a severe presentation, with altered mental status and seizures. The median duration of symptoms was 4.5 months. The diagnosis was confirmed by serum cortisol and plasma ACTH measurement and all were confirmed to have autoimmune etiology (positive anti-adrenal antibodies). At diagnosis, the most common laboratory abnormality was hyponatremia. All patients were treated with hydrocortisone and fludrocortisone. One patient presented with evidence of type 2 autoimmune polyglandular syndrome. Conclusion: PAI is a rare condition in the pediatric age group. Due to non-specific symptoms, a high index of suspicion is necessary to establish a prompt diagnosis. Once an autoimmune etiology is confirmed, it is important to initiate the appropriate treatment and search for signs and symptoms of other autoimmune diseases during follow-up.

Background and aims: Zephyranthes brachyandra belongs to a tribe of ornamental Amaryllidaceae native of South America, whose genera circumscription and phylogenetic relationships are still unclear. Cytologically, Z. brachyandra is a tetraploid whose chromosomes are of similar size and morphology, hindering the identification of its 2n = 24 chromosomes. The aim of this study was to investigate the stability of the many CMA+ and DAPI+ bands and the occurrence of B chromosomes by a cytomolecular approach.  M&M: For this investigation we conducted a cytomolecular analysis with CMA/DAPI staining and fluorescence in situ hybridization with 5S and 35S rDNA probes, and the TTTAGGG telomeric probe. Results: In the present work, a cytomolecular analysis of Z. brachyandra, revealed a large and variable number of CMA+ and DAPI+ heterochromatic bands and 5S and 35S rDNA sites, and a regular distribution of the TTTAGGG telomeric sequences. In addition, one individual was monotrisomic with 2n = 24, and another one had a B chromosome. Both numerical and structural chromosome alterations were clearly characterized by CMA/DAPI bands and rDNA sites. Conclusions: Comparing the present data with the cytological data for other species of Zephyranthes, it becomes clear that a cytomolecular approach is fundamental to the understanding of the chromosome variation and cytotaxonomy of the group.