-
British Medical Journal May 1972
Topics: Child, Preschool; Cyclophosphamide; Humans; Male; Nails; Pigmentation Disorders; Tooth Discoloration
PubMed: 5022057
DOI: 10.1136/bmj.2.5809.352-b -
Scandinavian Journal of Immunology Jun 2021Griscelli syndrome (GS) is a rare autosomal recessive disease with characteristic pigment distribution, and there are currently 3 types according to the underlying... (Meta-Analysis)
Meta-Analysis Review
Griscelli syndrome (GS) is a rare autosomal recessive disease with characteristic pigment distribution, and there are currently 3 types according to the underlying genetic defect and clinical features. We present the case of a girl born from consanguineous parents who presented with predominant neurologic symptoms, silvery hair and granulomatous skin lesions. Cerebral magnetic resonance revealed diffuse white matter lesions, and central nervous system (CNS) lymphocytic infiltration was suspected. The patient underwent haematopoietic stem cell transplantation with graft failure and autologous reconstitution. She developed elevated liver enzyme with a cholestatic pattern. Multiple liver biopsies revealed centrilobular cholestasis and unspecific portal inflammation that improved with immunomodulatory treatment. She was revealed to have an impaired cytotoxicity in NK cells and a decreased expression of RAB27A. However, no variants were found in the gene. All types of GS present with pigment dilution and irregular pigment clumps that can be seen through light microscopy in hair and skin biopsy. Dermic granulomas and immunodeficiency with infectious and HLH predisposition have been described in GS type 2 (GS2). Neurologic alterations might be seen in GS type 1 (GS1) and GS type 2 (GS2), due to different mechanisms. GS1 presents with neurologic impairment secondary to myosin Va role in neuronal development and synapsis. Meanwhile, GS2 can present with neurologic impairment secondary to SNC HLH. Clinical features and cytotoxicity might aid in differentiating GS1 and GS2, especially since treatment differs.
Topics: Biomarkers; Biopsy; Disease Management; Disease Susceptibility; Genetic Predisposition to Disease; Hearing Loss, Sensorineural; Humans; Lymphohistiocytosis, Hemophagocytic; Mutation; Phenotype; Piebaldism; Pigmentation Disorders; Primary Immunodeficiency Diseases; Prognosis
PubMed: 33660295
DOI: 10.1111/sji.13034 -
Pigment Cell & Melanoma Research Mar 2021Melanocytes are static, minimally proliferative cells. This leaves them vulnerable in vitiligo. Yet upon malignant transformation, they form vicious tumors. This... (Review)
Review
Melanocytes are static, minimally proliferative cells. This leaves them vulnerable in vitiligo. Yet upon malignant transformation, they form vicious tumors. This profound switch in physiology is accompanied by genetic change and is driven by environmental factors. If UV exposure in younger years supports malignant transformation and melanoma formation, it can likewise impart mutations on melanocytes that reduce their viability, to initiate vitiligo. A wide variety of microbes can influence these diametrically opposed outcomes before either disease takes hold. These microbes are vehicles of change that we are only beginning to study. Once a genetic modification occurs, there is a wide variety of immune cells ready to respond. Though it does not act alone, the T cell is among the most decisive responders in this process. The same biochemical process that offered the skin protection by producing melanin can become an Achilles heel for the cell when the T cells target melanosomal enzymes or, on occasion, neoantigens. T cells are precise, determined, and consequential when they strike. Here, we probe the relationship between the microbiome and its metabolites, epithelial integrity, and the activation of T cells that target benign and malignant melanocytes in vitiligo and melanoma.
Topics: Awards and Prizes; Humans; Melanins; Melanocytes; Melanoma; Microbiota; Pigmentation Disorders; T-Lymphocytes
PubMed: 33438345
DOI: 10.1111/pcmr.12957 -
The Pan African Medical Journal 2015
Topics: Child, Preschool; Female; Humans; Pigmentation Disorders; Waardenburg Syndrome
PubMed: 26309460
DOI: 10.11604/pamj.2015.20.427.6209 -
The Pan African Medical Journal 2015
Topics: Biopsy; Disease Progression; Female; Humans; Leg; Middle Aged; Pigmentation Disorders; Purpura
PubMed: 27386021
DOI: 10.11604/pamj.2015.20.144.3021 -
Sultan Qaboos University Medical Journal Nov 2022
Topics: Humans; Purpura; Pigmentation Disorders; Exanthema; Eczema
PubMed: 36407701
DOI: 10.18295/squmj.1.2022.004 -
Iranian Journal of Kidney Diseases Sep 2015End-stage renal disease (ESRD) is a rapidly growing global health problem within the past decades due to increased life expectancy, diabetes mellitus, hypertension, and... (Review)
Review
End-stage renal disease (ESRD) is a rapidly growing global health problem within the past decades due to increased life expectancy, diabetes mellitus, hypertension, and vascular diseases. Since ESRD is not curable definitively, patients suffering from ESRD have a very low quality of life; therefore, symptomatic management is the cornerstone of medical treatment. Uremia affects almost all body organs, such as skin, through different mechanisms including biochemical, vascular, neurologic, immunologic, hematologic, endocrine, and electrolyte and volume balance disturbances. Some of these conditions are associated with significant morbidity, and patients with ESRD commonly present with a spectrum of dermatologic disorders. Each one has its own unique presentation and treatment approaches. In this review article, we discuss the clinical presentation, pathophysiology, and treatment of the most common skin disorders associated with ESRD.
Topics: Calcinosis; Calciphylaxis; Gadolinium; Humans; Kidney Failure, Chronic; Nail Diseases; Nephrogenic Fibrosing Dermopathy; Pigmentation Disorders; Pruritus; Skin Diseases; Skin Diseases, Vesiculobullous; Uremia
PubMed: 26338157
DOI: No ID Found -
Orphanet Journal of Rare Diseases Dec 2012Amyloidosis cutis dyschromica is a rarely documented variant of cutaneous amyloidosis. To date, only 26 cases have been reported.
BACKGROUND
Amyloidosis cutis dyschromica is a rarely documented variant of cutaneous amyloidosis. To date, only 26 cases have been reported.
OBJECTIVE
The purpose of this study was to improve the clinical and histopathological data for this variant of amyloidosis and to highlight the immunohistochemical features of the disease. The published cases were also reviewed.
METHODS
We performed a retrospective review of patients with amyloidosis cutis dyschromica in a single centre. The clinical, histopathological and immunohistochemical features were documented and analysed.
OBSERVATIONS
We described 10 cases of amyloidosis cutis dyschromica. Six of them were female. Five patients were from the same family, and the other 5 were sporadic. The distinguishing features of the clinical presentation included generalised mottled hyper- and hypopigmented macules, which were asymptomatic or mild pruritic. The typical onset of the lesions occurred in childhood (n = 7) and occasionally after puberty (n = 3). No evidence of systemic amyloidosis deposition was observed in these cases of amyloidosis cutis dyschromica. Amyloid deposits were observed in the papillary dermis and were positive for the Congo red stain. An immunohistochemical study showed that the amyloid expresses cytokeratins CK34βE12 and CK5/6.
CONCLUSIONS
We described the largest series of amyloidosis cutis dyschromica to date and reviewed the published patients. This rare disease is featured by generalised mottled hyper- and hypopigmented lesions, and it is a rare variant of primary cutaneous amyloidosis without evidence of systemic amyloid deposition. Positive staining for the cytokeratins CK34βE12 and CK5/6 in amyloidosis cutis dyschromica suggests that the amyloid is derived from keratinocytes.
Topics: Adolescent; Adult; Aged; Amyloidosis; Congo Red; Female; Humans; Immunoglobulin Light-chain Amyloidosis; Keratinocytes; Keratins; Male; Middle Aged; Pigmentation Disorders; Retrospective Studies; Skin Diseases; Young Adult
PubMed: 23234252
DOI: 10.1186/1750-1172-7-95 -
The Israel Medical Association Journal... Oct 2008For centuries skin pigmentation has played a major societal role, and genetic disorders of skin pigmentation have always evoked the curiosity of both laypersons and... (Review)
Review
For centuries skin pigmentation has played a major societal role, and genetic disorders of skin pigmentation have always evoked the curiosity of both laypersons and physicians. Normal skin pigmentation is a complex process that begins with the synthesis of melanin within the melanocytes, followed by its transfer to neighboring keratinocytes where it is translocated to the upper pole of the nucleus and degraded as the keratinocyte undergoes terminal differentiation. Mutations in various genes involved in melanocyte migration during embryogenesis, melanin synthesis and melanosomal function and transfer have been shown to cause pigmentation disorders. In the present review, we discuss normal skin pigmentation and the genetic underpinning of selected disorders of hypo- and hyperpigmentation.
Topics: Cell Proliferation; Genetic Predisposition to Disease; Humans; Melanins; Melanocytes; Pigmentation Disorders
PubMed: 19009952
DOI: No ID Found -
Dermatology Online Journal Dec 2018Lichen planus pigmentosus (LPP) is an uncommon variant of lichen planus of unclear etiology that predominantly affects patients of skin types III to VI. We report a case...
Lichen planus pigmentosus (LPP) is an uncommon variant of lichen planus of unclear etiology that predominantly affects patients of skin types III to VI. We report a case of LPP of two years duration in a 67-year-old man involving upper extremities, chest, abdomen, and upper back.
Topics: Abdomen; Aged; Back; Dermoscopy; Humans; Lichen Planus; Male; Pigmentation Disorders; Scalp Dermatoses; Skin Pigmentation; Thorax
PubMed: 30677796
DOI: No ID Found