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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 -
Experimental Dermatology Sep 2023Dyschromatosis universalis hereditaria (DUH) is characterized by diffuse symmetrically distributed hypopigmented macules mixed with hyperpigmentation. DUH is divided... (Review)
Review
Dyschromatosis universalis hereditaria (DUH) is characterized by diffuse symmetrically distributed hypopigmented macules mixed with hyperpigmentation. DUH is divided into three types by Online Mendelian inheritance in man (OMIM) that is, DUH1 (OMIM 127500), DUH2 (OMIM 612715) and DUH3 (OMIM 615402) according to the different linkage regions. Although each condition possesses corresponding phenotypic characteristics and the prognosis for each is somewhat different, these disorders are highly overlapped and difficult to differentiate in the clinical setting. Our latest study reveals a novel DUH subtype that presents a mild phenotype of pigmentation anomalies and is named PER3 SNP related DUH or DUH4 by us, which make the DUH subtype can be further retyped. Heterozygous distribution or mosaic-like distribution of melanin is a newly discovered pathological features that is uniquely demonstrated in the affected layers of DUH1 and DUH4 patients. In this review, DUH is further divided into four subtypes according the causative genes and their mutational sites, and the mutation regions described in the previous reports. To make an accurate diagnosis, we suggest that Sanger sequencing or the target region sequencing (TRS) to the candidate causative genes related melanogenesis may be the most effective and convenient method of clinical diagnosis or/and prenatal diagnosis for DUH and DUH-like patients. More importantly, heterozygous distribution or mosaic-like distribution of melanin can be utilized for differential diagnosis of DUH. We also investigate the underlying molecular mechanism to form mosaic-like melanin in the affected layers of hyper- and/or hypo-pigmented macules from DUH1 and DUH4 patients. This review provides a molecular and pathological delineation of four types of DUH and aims to establish a concise diagnostic strategy to allow clinical dermatologists to make an accurate diagnosis.
Topics: Humans; Pathology, Molecular; Melanins; Skin Diseases, Genetic; Hyperpigmentation; Pedigree
PubMed: 37353900
DOI: 10.1111/exd.14860 -
Cancers Nov 2023Leukemia cutis (LC) is defined as the leukemic infiltration of the epidermis, the dermis, and the subcutaneous tissue. Leukemia cutis may follow or occur simultaneously... (Review)
Review
Leukemia cutis (LC) is defined as the leukemic infiltration of the epidermis, the dermis, and the subcutaneous tissue. Leukemia cutis may follow or occur simultaneously with the diagnosis of systemic leukemia. However, cutaneous lesions are occasionally diagnosed as the primary manifestation of leukemia. Leukemic skin infiltrations demonstrate considerable variation regarding a number of changes, distribution, and morphology. The highest incidence of LC is observed in chronic lymphocytic leukemia, monocytic and myelomonocytic acute myeloid leukemia, and T-cell lineage leukemia. Although the pathogenic mechanism of the invasion of leukemic cells into the skin is not well understood, chemokine receptors and adhesion molecules as well as the genetic characteristics of leukemia are thought to play a role. Leukemic skin lesions may be localized or disseminated and may occur alone or in combination on any site of the skin, most frequently in the trunk and extremities. The most common clinical presentations of leukemia cutis are papules, nodules, macules, plaques, and ulcers. In most patients, the complete or partial resolution of cutaneous infiltrations occurs simultaneously with hematologic remission. However, in patients with resistant disease or recurrent skin infiltration, local radiotherapy can be used. This review presents recent data on the pathogenesis, diagnosis, and treatment of leukemic skin involvement in different types of leukemia.
PubMed: 38001655
DOI: 10.3390/cancers15225393 -
JAMA Dermatology May 2024
PubMed: 38776072
DOI: 10.1001/jamadermatol.2024.1029 -
Dermatology Practical & Conceptual Dec 2023Vitiligo is the most common cause of depigmentation and its estimated worldwide prevalence ranges from 0.5% to 2%. The disease is characterized by the development of... (Review)
Review
Vitiligo is the most common cause of depigmentation and its estimated worldwide prevalence ranges from 0.5% to 2%. The disease is characterized by the development of white macules resulting from a loss of epidermal melanocytes. The term vitiligo (nonsegmental) is now a consensus umbrella term for all forms of generalized vitiligo. Two other subsets of vitiligo are segmental vitiligo and unclassified/undetermined vitiligo, which corresponds to focal disease and rare variants. A series of hypopigmented disorders may masquerade as vitiligo, and some of them need to be ruled out by specific procedures including a skin biopsy. The skin plays an important role in our interaction with the world and any change in the skin colour can have important psychological consequences. In this line, vitiligo has a major impact on quality of life.In this review, we will detail the most recent data on the clinical features of vitiligo and its impact on quality of life.
PubMed: 38241394
DOI: 10.5826/dpc.1304S2a312S -
Cureus Oct 2023Facial hyperpigmented lesions that are unilateral are a rare and challenging dermatological anomaly since birth which can be genetic and non-genetic. This paper seeks to...
Facial hyperpigmented lesions that are unilateral are a rare and challenging dermatological anomaly since birth which can be genetic and non-genetic. This paper seeks to provide an exhaustive overview of the etiology, clinical presentation, differential diagnosis, and management strategies for these congenital lesions. Unilateral facial hyperpigmented lesions can be caused by a number of conditions, such as congenital melanocytic nevi, Becker's nevus, nevus of Ota, linear epidermal nevi, and café-au-lait macules. Accurate diagnosis requires meticulous examination, dermoscopy, and histopathological evaluation. Observation, topical therapies, surgical excision, and laser therapy are among the available treatment options. Treatment decisions should be influenced by factors such as lesion characteristics, aesthetic concerns, and patient preferences. Long-term supervision and psychosocial support are indispensable elements of comprehensive management. We present a case of a 12-year-old patient with a progressively growing hyperpigmented lesion on the right side of the face, present since birth with an intermittent area of normal skin in between. Dermoscopy unveiled an irregular, dark brown pigment network, and histopathological evaluation showed an increased number of melanocytes in the dermis. This case highlights the diagnostic challenges of such lesions and underscores the significance of a multidisciplinary approach for accurate evaluation and management. This paper aims to cover existing knowledge gaps regarding unilateral facial hyperpigmented lesions since birth and direct future research efforts for diagnostic and therapeutic interventions.
PubMed: 38034188
DOI: 10.7759/cureus.47901 -
Diagnostics (Basel, Switzerland) Dec 2023Pediatric mastocytosis is mostly a cutaneous disease classified as cutaneous mastocytosis (CM), which is characterized by mast cell (MCs) accumulation in the skin and... (Review)
Review
Pediatric mastocytosis is mostly a cutaneous disease classified as cutaneous mastocytosis (CM), which is characterized by mast cell (MCs) accumulation in the skin and the absence of extracutaneous involvement. Based on the morphology of skin lesions, CM can be divided into three major forms: maculopapular CM (MPCM), diffuse CM (DCM) and mastocytoma of the skin. A positive Darier's sign is pathognomonic for all forms of CM. MPCM is the most common form, presenting with red-brown macules or slightly raised papules. Mastocytoma is characterized by solitary or a maximum of three nodular or plaque lesions. DCM is a rare, severe form which presents as erythroderma, pachydermia and blistering in the infantile period of the disease. CM is associated with MC mediator-related symptoms, most commonly including pruritus, flushing, blistering, diarrhea and cramping. Anaphylactic shock occurs rarely, mainly in patients with extensive skin lesions and a significantly elevated serum tryptase level. Childhood-onset MPCM and mastocytoma are usually benign diseases, associated with a tendency for spontaneous regression, while DCM is associated with severe mediator-related symptoms, an increased risk of anaphylaxis and, in some cases, underlying systemic mastocytosis (SM). In contrast to adults, SM is a rare finding in children, most commonly presenting as indolent SM. However, advanced SM sporadically occurs.
PubMed: 38066824
DOI: 10.3390/diagnostics13233583 -
Journal of Clinical Virology : the... Apr 2024Monkeypox virus (MPXV) is responsible for causing a zoonotic disease called monkeypox (mpox), which sporadically infects humans in West and Central Africa. It first... (Review)
Review
Monkeypox virus (MPXV) is responsible for causing a zoonotic disease called monkeypox (mpox), which sporadically infects humans in West and Central Africa. It first infected humans in 1970 and, along with the variola virus, belongs to the genus Orthopoxvirus in the poxvirus family. Since the World Health Organization declared the MPXV outbreak a "Public Health Emergency of International Concern" on July 23, 2022, the number of infected patients has increased dramatically. To control this epidemic and address this previously neglected disease, MPXV needs to be better understood and reevaluated. In this review, we cover recent research on MPXV, including its genomic and pathogenic characteristics, transmission, mutations and mechanisms, clinical characteristics, epidemiology, laboratory diagnosis, and treatment measures, as well as prevention of MPXV infection in light of the 2022 and 2023 global outbreaks. The 2022 MPXV outbreak has been primarily associated with close intimate contact, including sexual activity, with most cases diagnosed among men who have sex with men. The incubation period of MPXV infection usually lasts from 6 to 13 days, and symptoms include fever, muscle pains, headache, swollen lymph nodes, and a characteristic painful rash, including several stages, such as macules, papules, blisters, pustules, scabs, and scab shedding involving the genitals and anus. Polymerase chain reaction (PCR) is usually used to detect MPXV in skin lesion material. Treatment includes supportive care, antivirals, and intravenous vaccinia immune globulin. Smallpox vaccines have been designed with four givens emergency approval for use against MPXV infection.
Topics: Male; Animals; Humans; Mpox (monkeypox); Monkeypox virus; Homosexuality, Male; Sexual and Gender Minorities; Zoonoses
PubMed: 38432097
DOI: 10.1016/j.jcv.2024.105662 -
Journal of Cosmetic Dermatology Dec 2023Reflectance confocal microscopy (RCM) has quickly transitioned from a research tool to an adjunct diagnostic bedside tool, providing the opportunity for noninvasive... (Review)
Review
BACKGROUND
Reflectance confocal microscopy (RCM) has quickly transitioned from a research tool to an adjunct diagnostic bedside tool, providing the opportunity for noninvasive evaluation of skin lesions with histologic resolution. RCM is an optical imaging technique that uses near-infrared excitation wavelengths and safe low-power lasers. En-face images of different skin layers (up to the superficial dermis) are acquired in grayscale based on the reflective indices of tissue components. Melanin has the highest reflective index (contrast) and appears bright on RCM.
AIMS
We present a review of the current literature on the use of RCM in the diagnosis and management of pigmentary disorders.
METHODS
We reviewed PubMed and Ovid Medline databases from January 2000 to June 2021, using MeSH key terms: "reflectance confocal microscopy, confocal laser scanning microscopy, pigmentary disorders, treatment, melasma, vitiligo, freckles, solar lentigo, lentigo, tattoo, complications, melanoma, skin cancers, pigmented lesions, post inflammatory, melanin, photoaging" to identify studies and review articles discussing the use of RCM in the diagnosis and management of pigmentary disorders.
RESULTS
RCM findings of pigmentary disorders were divided into the following categories: (1) disorders of increased pigmentation (post-inflammatory hyperpigmentation, melasma, Riehl's melanosis, solar lentigines, ephelides, hori nevus, naevus of Ota, café-au-lait macules, melanocytic nevus, melanoma, nevus spilus, labial mucosal melanosis, and mucosal melanoma), (2) disorders of decreased pigmentation or depigmentation (post-inflammatory hypopigmentation, vitiligo, nevus depigmentosus, halo nevus), and (3) exogenous pigmentation (tattoo, ochronosis).
CONCLUSION
RCM has been explored and proven valuable for the evaluation and management of pigmentary disorders including melasma, vitiligo, solar lentigines, tattoo, and tattoo-related complications.
Topics: Humans; Vitiligo; Melanins; Melanosis; Skin Neoplasms; Nevus; Hyperpigmentation; Hypopigmentation; Melanoma; Lentigo; Microscopy, Confocal
PubMed: 37759421
DOI: 10.1111/jocd.15827