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Reviews in Endocrine & Metabolic... Sep 2016Male fertility can be affected by a variety of organs diseases, including the skin. Several genodermatoses affect the skin and several other organs including the male... (Review)
Review
Male fertility can be affected by a variety of organs diseases, including the skin. Several genodermatoses affect the skin and several other organs including the male reproductive system, commonly in the form of cryptorchidism and hypogonadism. The most relevant syndromes are associated with dyschromias, such as deSanctis-Cacchione, poikiloderma congenital, LEOPARD, and H syndrome; others with ichthyosis, such as Rud, and trichothiodystrophy; or a group of unrelated genodermatoses, such as ablepharon macrostomia, Coffin-Siris, Gorlin-Goltz, and Werner. Acquired skin diseases may also affect male fertility usually in the form of orchitis or epididymal obstruction or androgen antagonists. These include infections (leprosy and HIV), autoimmune (erythema nodosum leprosum), granulomatous (sarcoidosis, Langerhans cell histiocytosis), nutritional deficiency (zinc), and malignancy. Several therapeutics of skin diseases are notorious for their effects on male fertility, most notably are the cytotoxic drugs (methotrexate), irradiation, and antiandrogens (spironolactone, finasteride). Although the prevalence of these skin diseases is low, the associated male infertility represents a challenge due to the difficulty of its management. Clinical management of the skin diseases should include consideration of their effects not only on the diseases but also on the male reproductive system.
Topics: Humans; Infertility, Male; Male; Skin Diseases
PubMed: 27342409
DOI: 10.1007/s11154-016-9368-x -
Revista Paulista de Pediatria : Orgao... 2023The aim of this study was to describe the disease and treatment and to alert health professionals for the identification of signs and symptoms and the need for an early...
OBJECTIVE
The aim of this study was to describe the disease and treatment and to alert health professionals for the identification of signs and symptoms and the need for an early diagnosis in patients with xeroderma pigmentosum (XP).
CASE DESCRIPTION
An 8-year-old male patient was referred to the Joana de Gusmão Hospital (HIJG) in 2021 for evaluation and specialized care. Previously, the child was followed in his place of origin by oncologic and palliative care, where he was submitted to surgeries and chemotherapy. He was admitted to the HIJG using vismodegib, acitrein, tramadol, and solar protective measures. On physical examination, there were tumors and disseminated macular verrucous and ulcerated lesions. The imaging examination showed solid and expansive lesions on the face, and atelectasis and fibroscarring changes in the lung. The histopathological report proved the existence of melanocanthoma, carcinoma, and pyogenic granuloma. After the evaluation of the case, no surgery, chemotherapy, or radiotherapy was performed. It was decided to maintain the palliative treatment and to continue the use of tramadol for pain, and vismodegib and acitretin were used to control carcinomas and prophylactic measures.
COMMENTS
The XP is a rare disease of autosomal recessive inheritance whose mechanism comes from failure in the DNA repair by exposure to ultraviolet rays, resulting in lesions on the skin and mucous membranes. They start as sunburns and can progress to melanosis, areas with altered pigmentation, premature aging, poikiloderma, and areas of high risk for neoplasms.
Topics: Child; Male; Humans; Xeroderma Pigmentosum; Tramadol; DNA Repair; Skin Diseases; Carcinoma; Skin Neoplasms
PubMed: 36921168
DOI: 10.1590/1984-0462/2023/41/2021390 -
The Pan African Medical Journal 2017
PubMed: 28819515
DOI: 10.11604/pamj.2017.27.94.12959 -
Cancer Genetics Apr 2022Rothmund-Thomson syndrome (RTS) is an autosomal recessive cancer-predisposition disorder characterized by the presence of a wide range of clinical features including...
Rothmund-Thomson syndrome (RTS) is an autosomal recessive cancer-predisposition disorder characterized by the presence of a wide range of clinical features including poikiloderma, sparse hair, growth deficiency, cataracts, and skeletal abnormalities. Importantly, two-thirds of individuals with RTS have a significant risk of developing osteosarcoma due to the presence of biallelic pathogenic variants in RECQL4, a critical gene involved in DNA repair and replication. It is unknown whether individuals who are heterozygous for a RECQL4 pathogenic variant also have an increased risk of cancer. To address this question, we examined the largest international RTS registry and analyzed 123 RECQL4 heterozygous family members of RTS probands. Overall, the prevalence of cancer among RECQL4 heterozygous family members was 2.4% (3/123). We found that compared to the age-adjusted population estimate of 5.6% from the Surveillance, Epidemiology, and End Results program, the prevalence of cancer was not significantly different in this cohort of RECQL4 heterozygotes (Fisher's exact test, P = 0.2). Given that the biological parents of individuals with RTS are obligate heterozygotes and that siblings have a fifty-percent chance of being asymptomatic heterozygotes, these findings provide valuable information to help guide clinicians in counseling RTS family members regarding the likelihood of developing cancer.
Topics: Bone Neoplasms; Heterozygote; Humans; Mutation; Osteosarcoma; RecQ Helicases; Rothmund-Thomson Syndrome
PubMed: 35219053
DOI: 10.1016/j.cancergen.2022.02.001 -
Journal of Clinical Rheumatology :... Jan 2022Multicentric reticulohistiocytosis (MRH) is a rare multisystem disorder, primarily affecting the skin and joints. As severe joint damage is a possible symptom, early...
Multicentric reticulohistiocytosis (MRH) is a rare multisystem disorder, primarily affecting the skin and joints. As severe joint damage is a possible symptom, early diagnosis and therapeutic intervention are required. Cutaneous lesions present with characteristic features such as discrete reddish nodules, especially on acral locations. Additionally, the face, scalp, trunk and extremities are also affected. Xanthomatous plaques are also seen on the face. The cutaneous manifestations of MRH are various, which therefore should be differentiated from several diseases. In particular, MRH has been reported to assume clinical appearances resembling Gottron papules, periungual erythema, V-neck erythema, shawl sign, and poikiloderma associated with dermatomyositis. Histopathologic features show proliferation of multinucleated giant cells with abundant eosinophilic granular ground glass-like cytoplasm in the dermis. Multicentric reticulohistiocytosis is occasionally paraneoplastic and is associated with internal malignancies. The appropriate therapies are still challenging, and oral prednisolone, immunosuppressants, and recent biologics are used. In this article, cutaneous lesions, histopathology, and pathogenesis of MRH are mainly discussed from a dermatological perspective. It is important, not only for dermatologists but also for rheumatologists and orthopedists, to be able to distinguish between the various types of skin lesions brought on by MRH. Cutaneous signs are important diagnostic clues and assessment tools for therapeutic efficacy.
Topics: Arthritis; Dermatomyositis; Erythema; Histiocytosis, Non-Langerhans-Cell; Humans; Skin
PubMed: 33337805
DOI: 10.1097/RHU.0000000000001679 -
The Journal of Investigative Dermatology May 2016
Review
Topics: Adolescent; Blister; DNA Methylation; Epidermolysis Bullosa; Female; Genetic Predisposition to Disease; Germ-Line Mutation; Humans; Melanoma; Nevus, Pigmented; PTEN Phosphohydrolase; Periodontal Diseases; Photosensitivity Disorders; Proto-Oncogene Proteins B-raf; Sensitivity and Specificity; Skin Neoplasms
PubMed: 27140323
DOI: 10.1016/j.jid.2016.03.007 -
The Journal of Investigative Dermatology Apr 2021Aging results from intrinsic changes (chronologic) and damage from external exposures (extrinsic) on the human body. The skin is ideal to visually differentiate their... (Review)
Review
Aging results from intrinsic changes (chronologic) and damage from external exposures (extrinsic) on the human body. The skin is ideal to visually differentiate their unique features. Inherited diseases of DNA repair, such as xeroderma pigmentosum (XP), provide an excellent model for human aging due to the accelerated accumulation of DNA damage. Poikiloderma, atypical lentigines, and skin cancers, the primary cutaneous features of XP, occur in the general population but at a much older age. Patients with XP also exhibit ocular changes secondary to premature photoaging, including ocular surface tumors and pterygium. Internal manifestations of premature aging, including peripheral neuropathy, progressive sensorineural hearing loss, and neurodegeneration, are reported in 25% of patients with XP. Internal malignancies, such as lung cancer, CNS tumors, and leukemia and/or lymphoma, occur at a younger age in patients with XP, as do thyroid nodules. Premature ovarian failure is overrepresented among females with XP, occurring 20 years earlier than in the general population. Taken together, these clinical findings highlight the importance of DNA repair in maintaining genomic integrity. XP is a unique model of human premature aging, which is revealing new insights into aging mechanisms.
Topics: Aging; Aging, Premature; DNA Damage; DNA Repair; Humans; Mucous Membrane; Skin; Xeroderma Pigmentosum
PubMed: 33436302
DOI: 10.1016/j.jid.2020.11.012 -
The Journal of Clinical and Aesthetic... Feb 2016Diagnostic uncertainty when a patient presents with melasma-like Undings can lead to suboptimal treatment and inaccurate prognostic expectations. In this study, the... (Review)
Review
Diagnostic uncertainty when a patient presents with melasma-like Undings can lead to suboptimal treatment and inaccurate prognostic expectations. In this study, the authors present a unique clinical feature of melasma that they term the "Fitzpatrick macule" and test its Utility in establishing diagnostic certainty. The "Fitzpatrick macule" is a confetti-like macule of regularly pigmented skin located within a larger patch of melasma hyperpigmentation. To test its diagnostic Utility, the authors compared clinical photography of known cases of melasma with common mimickers, such as poikiloderma of Civatte and solar lentiginosis, and determined the positivity rate of the Fitzpatrick macule in each scenario. Their results show that 89.1 percent of clinical photographs of melasma were positive for the presence of Fitzpatrick macules compared to 1.1 percent that were negative. In contrast, 37.5 and 56.3 percent of clinical photographs of poikiloderma of Civatte were positive and negative for Fitzpatrick macules, respectively. Solar lentiginosis showed a 5.6 percent positivity and a 77.8 percent negativity for Fitzpatrick macules. The sensitivity and specificity of Fitzpatrick macules for melasma was 99 and 83 percent, respectively. In summary, the authors report a highly sensitive and specific clinical feature of melasma. In cases of diagnostic uncertainty, the presence of Fitzpatrick macules may aid in establishing a diagnosis of melasma.
PubMed: 27047632
DOI: No ID Found -
Genetics in Medicine : Official Journal... Jul 2023Rothmund-Thomson syndrome (RTS) is characterized by poikiloderma, sparse hair, small stature, skeletal defects, cancer, and cataracts, resembling features of premature...
PURPOSE
Rothmund-Thomson syndrome (RTS) is characterized by poikiloderma, sparse hair, small stature, skeletal defects, cancer, and cataracts, resembling features of premature aging. RECQL4 and ANAPC1 are the 2 known disease genes associated with RTS in >70% of cases. We describe RTS-like features in 5 individuals with biallelic variants in CRIPT (OMIM 615789).
METHODS
Two newly identified and 4 published individuals with CRIPT variants were systematically compared with those with RTS using clinical data, computational analysis of photographs, histologic analysis of skin, and cellular studies on fibroblasts.
RESULTS
All CRIPT individuals fulfilled the diagnostic criteria for RTS and additionally had neurodevelopmental delay and seizures. Using computational gestalt analysis, CRIPT individuals showed greatest facial similarity with individuals with RTS. Skin biopsies revealed a high expression of senescence markers (p53/p16/p21) and the senescence-associated ß-galactosidase activity was elevated in CRIPT-deficient fibroblasts. RECQL4- and CRIPT-deficient fibroblasts showed an unremarkable mitotic progression and unremarkable number of mitotic errors and no or only mild sensitivity to genotoxic stress by ionizing radiation, mitomycin C, hydroxyurea, etoposide, and potassium bromate.
CONCLUSION
CRIPT causes an RTS-like syndrome associated with neurodevelopmental delay and epilepsy. At the cellular level, RECQL4- and CRIPT-deficient cells display increased senescence, suggesting shared molecular mechanisms leading to the clinical phenotypes.
Topics: Humans; Rothmund-Thomson Syndrome; Cellular Senescence; DNA Damage; Hydroxyurea; Fibroblasts; Mutation; Adaptor Proteins, Signal Transducing
PubMed: 37013901
DOI: 10.1016/j.gim.2023.100836