-
Cancers Jan 2021Neurofibromatosis type 1 (NF1) is a complex autosomal dominant disorder associated with germline mutations in the NF1 tumor suppressor gene. NF1 belongs to a class of... (Review)
Review
Neurofibromatosis type 1 (NF1) is a complex autosomal dominant disorder associated with germline mutations in the NF1 tumor suppressor gene. NF1 belongs to a class of congenital anomaly syndromes called RASopathies, a group of rare genetic conditions caused by mutations in the Ras/mitogen-activated protein kinase pathway. Generally, NF1 patients present with dermatologic manifestations. In this review the main features of café-au-lait macules, freckling, neurofibromas, juvenile xanthogranuloma, nevus anemicus and other cutaneous findings will be discussed.
PubMed: 33530415
DOI: 10.3390/cancers13030463 -
Journal of the American Academy of... Nov 2021Fanconi anemia (FA) is a genetic disorder that results in bone marrow failure, physical abnormalities, and solid organ malignancies. The diagnosis of FA is often delayed...
BACKGROUND
Fanconi anemia (FA) is a genetic disorder that results in bone marrow failure, physical abnormalities, and solid organ malignancies. The diagnosis of FA is often delayed because the early disease characteristics have not been well established.
OBJECTIVE
To outline the spectrum of cutaneous findings seen in patients with FA.
METHODS
A cross-sectional study in which patients with FA received a full-body skin examination. Patient characteristics are summarized with mean (SD) for continuous and count (%) for categorical variables. Poisson regression and logistic regression models were used to examine the relationships between pigmentary changes and patient characteristics.
RESULTS
At least 1 cutaneous pigmentary alteration was present in 96.8% of patients, most arising before the teenage years. The most common finding was café-au-lait macules. Other findings included hypopigmented macules, skin-fold freckle-like macules, extensive sun-exposed freckling, and both hypopigmented and hyperpigmented pigment macules.
LIMITATIONS
Patients received a single assessment, so the number of pigmentary changes could not be assessed over time.
CONCLUSIONS
Characteristic morphology of FA includes faint and ill-defined café-au-lait macules, hypopigmented skin-fold freckle-like macules and the concurrence of hypopigmented and hyperpigmented macules. The recognition of these findings could aid clinicians in making earlier diagnoses.
Topics: Adolescent; Cafe-au-Lait Spots; Cross-Sectional Studies; Fanconi Anemia; Humans; Hyperpigmentation; Melanosis
PubMed: 32822789
DOI: 10.1016/j.jaad.2020.08.047 -
Frontiers in Medicine 2023Vitiligo is a common depigmentation disorder of an unknown origin characterized by the selective loss of melanocytes, resulting in typical white macules and patches.... (Review)
Review
Vitiligo is a common depigmentation disorder of an unknown origin characterized by the selective loss of melanocytes, resulting in typical white macules and patches. However, vitiligo is now recognized as more than just a skin disease, what a dermatologist observes as a white spot of skin is just the "tip of the iceberg" of the condition. We attempt to clarify the classification of comorbidities associated with vitiligo from various reviews and reports, and describe their possible pathogenesis. In conclusion, the literature provides evidence of an association between vitiligo and ocular and auditory abnormalities, autoimmune disorders, other dermatological diseases, metabolic syndrome and related disorders, and psychological diseases. These associations highlight the importance of a multidisciplinary approach in managing vitiligo patients.
PubMed: 36910477
DOI: 10.3389/fmed.2023.1072837 -
Experimental and Therapeutic Medicine Aug 2021Vitiligo is a multifactorial disease characterized by the loss of skin pigment, which results in achromic macules and patches. There are currently several medical... (Review)
Review
Vitiligo is a multifactorial disease characterized by the loss of skin pigment, which results in achromic macules and patches. There are currently several medical treatments available, which aim to arrest progression and induce skin repigmentation. These treatments alone or combined have exhibited varying degrees of pigmentation, and the majority are safe and effective. All therapies for vitiligo are limited, and no known treatment can consistently produce repigmentation in all patients. Individualized treatment is appropriate according to the location, clinical presentation and the presence of disease activity. The present review summarizes the medical treatments available for vitiligo: Systemic and topic pharmacological therapies, physical and depigmentation treatments. Several treatments are still underway and have not yet been approved. However, due to the promising preliminary results, these are also mentioned in the present review.
PubMed: 34093753
DOI: 10.3892/etm.2021.10229 -
Clinical Case Reports Jan 2022A woman had undergone excision for primary melanoma of the left heel and dissection of groin lymph nodes. The recurrent tumor on the lateral left lower leg developed six...
A woman had undergone excision for primary melanoma of the left heel and dissection of groin lymph nodes. The recurrent tumor on the lateral left lower leg developed six months ago and the depigmented plaques spread extensively on the left lower limb. The depigmented macules were localized to the left lower limb and were not seen in other areas. Although the left groin lymph node had been dissected, the local immune environment of anti-tumor immunity was preserved. The cause of melanoma-associated vitiligo is regarded to be anti-tumor autoimmune mediated, and this phenomenon is recently recognized during the therapy with immune checkpoint inhibitors in the treatment of stage III and IV melanoma.
PubMed: 35070306
DOI: 10.1002/ccr3.5290 -
Journal of Clinical Medicine Mar 2024Melasma is a commonly occurring pigmented skin condition that can significantly affect one's appearance, described as symmetric hyperpigmentation that presents as... (Review)
Review
Melasma is a commonly occurring pigmented skin condition that can significantly affect one's appearance, described as symmetric hyperpigmentation that presents as irregular brown to gray-brown macules on various facial areas, such as the cheeks, forehead, nasal bridge, and upper lip, along with the mandible and upper arms. Due to its complex pathogenesis and recurrent nature, melasma management is challenging and the outcomes following treatment are not always deemed satisfactory. Solely treating hyperpigmentation may prove ineffective unless paired with regenerative techniques and photoprotection, since one of the main reasons for recurrence is sun exposure. Hence, the treatment protocol starts with addressing risk factors, implementing stringent UV protection, and then treatment using different strategies, like applying topical treatments, employing chemical peels, laser and light therapies, microneedling, and systemic therapy. This review aims to provide a summary of the effectiveness and safety of the frequently employed laser and light therapies for treating melasma, focusing on laser therapy as a treatment for melasma.
PubMed: 38592701
DOI: 10.3390/jcm13051468 -
International Journal of Surgery Case... Nov 2021Angiosarcoma is a very rare malignancy, which varies based on the location and organ affected. A clinicopathological form of cutaneous angiosarcoma (CAS) involves the...
INTRODUCTION
Angiosarcoma is a very rare malignancy, which varies based on the location and organ affected. A clinicopathological form of cutaneous angiosarcoma (CAS) involves the head: scalp, face, and neck. We report a 59-year-old female patient with CAS on the temporoparietal region of the scalp.
CASE PRESENTATION
The patient presented with lesions in the head area, which appeared suddenly in the last 6 months, (before her surgery). Excision was performed under general anesthesia for bleeding as indicated on the right temporal region. The excision procedure was carried out three times at various stages, and then closed with skin grafts. Pathological examination of the three excised tissues showed progression, leading to CAS. Based on the clinical picture and anatomical assessment, a consultation with the surgical oncology department was necessary for further treatment.
DISCUSSION
Angiosarcoma has a high rate of progression. The onset of lesions, which are difficult to detect, does not often lead to progression. Other macroscopic features appear as bluish macules, which can be perceived as bruising. Wide surgical resection is the optimal treatment and is usually combined with radiotherapy and/or chemotherapy. This patient underwent gradual excision, based on bleeding in the right temporal lesion, along with progressive pain.
CONCLUSION
Surgical is the preferred management for our patients. Determination of multimodality therapy as treatment for CAS requires assessment of all factors related to age and patient condition. Follow-up evaluation is carried out after palliative therapy - to observe the general condition of the patient, tumor progression, tendency for metastases, and excision of any remaining lesions.
PubMed: 34741850
DOI: 10.1016/j.ijscr.2021.106506 -
Practical Neurology Mar 2024Two patients presented with side-locked frontal head pain, involving the supraorbital nerve territory, with an associated hypopigmented macule. The clinical progress and...
Two patients presented with side-locked frontal head pain, involving the supraorbital nerve territory, with an associated hypopigmented macule. The clinical progress and nerve biopsy in one indicated leprosy. In endemic regions, supraorbital neuralgia may be caused by leprosy sometimes without other neurocutaneous markers.
Topics: Humans; Neuralgia; Headache; Leprosy
PubMed: 37949660
DOI: 10.1136/pn-2023-003844