Becker Nevus Syndrome: A Rare Entity but Important to Recognize.

Becker's nevus syndrome is defined by the association of a Becker nevus with homolateral breast hypoplasia or more rarely skeletal cutaneous or muscle deformities. Early diagnosis is important, especially in female patients to prevent and treat breast hypoplasia. We report two cases of Becker nevus syndrome with serious functional impairment and discuss possible treatment options.

Nail changes in systemic amyloidosis.

Nail examination must be an essential part of physical examination in our daily clinical practice, as nail changes may be the revealing sign of systemic diseases in the absence of other alarming signs.

Effects of lead, cadmium, copper and zinc levels on the male reproductive function.

This study aimed to investigate the effects of heavy metals on measures of male fertility. One hundred and two infertile men with occupational exposure and thirty fertile men were included in this study. Blood and urinary levels of lead, cadmium, zinc and copper were measured by atomic absorption spectrophotometry. Semen parameters and a motile sperm organelle morphology examination were also performed. Measures of hormonal levels, oxidation-reduction potential, DNA fragmentation index and chromatin condensation were assessed for all participants. Heavy metals levels, oxidative stress and DNA quality were significantly higher in the infertile group compared to controls. FSH and testosterone levels were lower in the infertile group. A urinary cadmium level was positively associated with abnormal sperm morphology (r = .225, p < .05). Normal morphology was inversely correlated with the duration of the exposure (r = -.227, p = .022). The blood lead level was positively related to the level of testosterone (r = .223, p = .031). Cadmium and lead blood levels were positively correlated with the level of chromatin decondensation (r = .528, p < .001; r = .280, p = .017). Our study showed that occupational exposure to heavy metals is very harmful to reproductive health. DNA quality and oxidative stress investigations must be recommended for reprotoxic exposed patients prior to in vitro fertilisation treatment.

Chronic macrocheilia: a clinico-etiological series of 47 cases.

BACKGROUND: Macrocheilia is an inflammatory disfiguring condition responsible for the swelling of the lips. This multi-etiological entity represents a diagnostic and therapeutic challenge. Published data on macrocheilia is scarce, often limited to granulomatous cheilitis. METHODS: We conducted a retrospective study, including all patients presenting with chronic macrocheilia (CM) for nineteen years. CM was defined as a persistent enlargement of one or both lips for at least eight weeks. Both descriptive and analytical analyses were performed. RESULTS: Of the 47 patients identified, 20 (43%) had cutaneous leishmaniasis, 10 (21%) had Miescher's cheilitis, five (11%) had Melkersson-Rosenthal syndrome, five (11%) had sarcoidosis, one (2%) had lepromatous leprosy, one (2%) had systemic amyloidosis, and one (2%) had Crohn's disease. In four cases, the CM was unlabeled. Ulcerations were significantly associated with leishmaniasis (P < 0.05). Histological study showed a granulomatous infiltrate in 72% of cases. Medical treatment was adapted to the etiology of CM. Surgery was performed in two cases. Improvement of CM secondary to leishmaniasis was seen in all cases. In patients with idiopathic orofacial granulomatosis, partial improvement was noted in four cases and a total improvement in one case. Recurrences were noted in three cases after complete regression. CONCLUSIONS: Macrocheilia is a rare and disfiguring condition that requires an etiological investigation, considering that it can reveal a serious underlying systemic disease. We identified several factors that could help recognize the cause of CM, including age, history of intermittent swelling, the extent of lip enlargement, the existence of ulceration, and systemic symptoms.

Primary and isolated cutaneous precursor B-lymphoblastic lymphoma in an infant.

Cutaneous lesions may represent the initial sign of various neoplasms in children, including histiocytosis, neuroblastomas, and lymphomas. Primary cutaneous lymphoblastic lymphomas are rare and involve mostly the B-cell phenotype. Herein, we report a case of isolated, primary B-lymphoblastic lymphoma in a 7-month-old infant and emphasize the importance of early diagnosis.

Rickets in association with skin diseases and conditions: A review with emphasis on screening and prevention.

BACKGROUND: Rickets is a common disease worldwide. In the developed world, its prevalence dramatically decreased but still diagnosed in at-risk populations. The skin plays a critical role in vitamin D synthesis. Therefore, several skin diseases, especially keratinization disorders, could lead to impaired vitamin D metabolism and vitamin D deficient rickets. OBJECTIVE: The article aimed to summarize the current knowledge of skin diseases and conditions associated with rickets. METHODS: To examine the association between rickets and skin diseases, we performed a systematic review of the literature using PubMed database. The search included studies published from the database inception to August 2019. RESULTS: A total number of 75 articles were included. Identified conditions associated with rickets were ichthyosis being a more common skin diseases, alopecia, epidermal and melanocytic nevi, xeroderma pigmentosum, mastocytosis, psoriasis, and atopic dermatitis. Three types of rickets were identified: vitamin D-dependent rickets, hypocalcemic vitamin D-dependent rickets type 2, and hypophosphatemic rickets. Cutaneous skeletal hypophosphatemia syndrome is a newly described and under-recognized condition. It is defined by the association of epidermal or melanocytic nevi, hypophosphatemic rickets, and elevated levels of fibroblast growth factor 23. Rickets in patients with ichthyosis was mainly due to impaired ability of ichthyotic skin to synthesize vitamin D, poor UV penetration of the skin caused by keratinocyte proliferation, and dark phototype. The latter may be considered a risk factor for rickets in patients with ichthyosis. CONCLUSION: Despite its rarity, these associations should be properly recognized by dermatologists. Early diagnosis of rickets is important to prevent growth retardation and skeletal deformities.

Y chromosome microdeletions screening in Tunisian infertile men.

The aim of this study was to establish the prevalence of chromosomal abnormalities and microdeletions on the Y chromosome in Tunisian infertile men with severe oligozoospermia or non-obstructive azoospermia. In cases of azoospermia, we aimed also to correlate histological results after negative testicular sperm extraction with the type of Y chromosome microdeletion. 84 infertile patients and 52 controls were screened for karyotypic abnormalities using G-banding and Yq chromosome microdeletions using multiplex PCR. 7 infertile males (8.3%) carried chromosomal abnormalities and 8 (9.5%) presented Y chromosome microdeletions. The frequency of chromosome abnormalities in azoospermic patients was 11.1% vs 3.3% in the severe oligozoospermic group. Klinefelter syndrome was the most frequent chromosomal abnormalities in 85.7% of cases. Only one patient had a 46,X,del Y/45,X karyotype. The frequency of microdeletions was 11.1% in the azoospermic group and 6.7% in the severe oligozoospermic group. Six out of 84 (7.14%) of the infertile patients had microdeletions in the AZFc region, one azoospermic male had microdeletion in the AZFbc regions and one in the AZFb region, no deletions in the AZFa region. Among the 6 azoospermic patients with microdeletions: 4 had Sertoly cell only syndrome (SCOS) and 2 had maturation arrest (MA). Genetic abnormalities in infertile Tunisian patients are similar to those reported in other countries. The knowledge of the existence of genetic abnormalities and microdeletions is useful to provide a correct diagnosis and it allows the clinician to refer the patient to adequate assisted reproduction technique and examine the value of testicular biopsy pertinence.