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Harefuah Jun 2023Piebaldism is the dominantly inherited skin disorder clinically characterized by congenital stable and well circumscribed patches of leukoderma (depigmented skin) of...
Piebaldism is the dominantly inherited skin disorder clinically characterized by congenital stable and well circumscribed patches of leukoderma (depigmented skin) of ventral distribution, involving central forehead, frontal chest and abdomen and central portion of limbs, and by localized poliosis (white hair). Inherited or de novo mutations in proto-oncogene KIT, encoding the transmembrane tyrosine kinase receptor c-kit, underly the majority of piebaldism cases. Piebaldism is a disorder characterized by incomplete penetrance and variable expressivity.
Topics: Humans; Piebaldism; Proto-Oncogene Proteins c-kit; Cafe-au-Lait Spots
PubMed: 37394438
DOI: No ID Found -
Annales de Dermatologie Et de... Sep 2023
Topics: Humans; Tattooing; Nivolumab
PubMed: 37271607
DOI: 10.1016/j.annder.2023.01.002 -
EMBO Reports Jul 2023Dysregulation of the activity of the mechanistic target of rapamycin complex 1 (mTORC1) is commonly linked to aging, cancer, and genetic disorders such as tuberous...
Dysregulation of the activity of the mechanistic target of rapamycin complex 1 (mTORC1) is commonly linked to aging, cancer, and genetic disorders such as tuberous sclerosis (TS), a rare neurodevelopmental multisystemic disease characterized by benign tumors, seizures, and intellectual disability. Although patches of white hair on the scalp (poliosis) are considered as early signs of TS, the underlying molecular mechanisms and potential involvement of mTORC1 in hair depigmentation remain unclear. Here, we have used healthy, organ-cultured human scalp hair follicles (HFs) to interrogate the role of mTORC1 in a prototypic human (mini-)organ. Gray/white HFs exhibit high mTORC1 activity, while mTORC1 inhibition by rapamycin stimulated HF growth and pigmentation, even in gray/white HFs that still contained some surviving melanocytes. Mechanistically, this occurred via increased intrafollicular production of the melanotropic hormone, α-MSH. In contrast, knockdown of intrafollicular TSC2, a negative regulator of mTORC1, significantly reduced HF pigmentation. Our findings introduce mTORC1 activity as an important negative regulator of human HF growth and pigmentation and suggest that pharmacological mTORC1 inhibition could become a novel strategy in the management of hair loss and depigmentation disorders.
Topics: Humans; Hair Follicle; Mechanistic Target of Rapamycin Complex 1; Pigmentation; Melanocytes; Hair Color
PubMed: 37212043
DOI: 10.15252/embr.202256574 -
Prognosis in patients with alopecia areata with poliosis: A retrospective cohort study of 479 cases.Indian Journal of Dermatology,... 2023
Topics: Humans; Alopecia Areata; Retrospective Studies; Pigmentation Disorders; Hair Diseases; Prognosis
PubMed: 37067136
DOI: 10.25259/IJDVL_552_2022 -
La Revue de Medecine Interne Mar 2023
PubMed: 36863805
DOI: 10.1016/j.revmed.2022.07.010 -
Journal of Oncology Pharmacy Practice :... Jul 2023Combined immune checkpoint inhibitor therapy has been successfully used in the treatment of several malignancies. Adverse effects with the combination therapy may be...
INTRODUCTION
Combined immune checkpoint inhibitor therapy has been successfully used in the treatment of several malignancies. Adverse effects with the combination therapy may be more severe than the ones seen with single immune checkpoint inhibitors.
CASE PRESENTATION
We report a unique case of a 59-year-old man of dark skin complexion who underwent treatment with intravenous ipilimumab-nivolumab every 3 weeks for metastatic malignant melanoma. After three cycles of this therapy, he developed extensive skin depigmentation that within 6 weeks, affected nearly the entire skin surface, along with progressive poliosis.
MANAGEMENT AND OUTCOME
Ipilimumab-nivolumab therapy was subsequently discontinued due to grade 3 enterocolitis requiring high-dose steroids and intravenous infliximab. About six months later, imaging studies showed a relapse of malignant melanoma. At that juncture, vitiligo affected the total body surface area, resembling albinism, along with near-total poliosis and significant photosensitivity. Pembrolizumab was tried but had to be stopped after three cycles due to the reoccurrence of grade 3 enterocolitis. Progression of malignant melanoma with new brain, lung, liver, subcutaneous, and colonic metastases led to the patient's demise.
CONCLUSION
We report a unique case of severe vitiligo and poliosis that involved total body surface area in a Caucasian man with dark complexion, resembling albinism. Further studies are warranted to evaluate the severity of dermatologic side effects with combination immune checkpoint inhibitor therapy.
Topics: Male; Humans; Middle Aged; Nivolumab; Ipilimumab; Antineoplastic Agents, Immunological; Vitiligo; Immune Checkpoint Inhibitors; Neoplasm Recurrence, Local; Melanoma; Antineoplastic Combined Chemotherapy Protocols; Drug-Related Side Effects and Adverse Reactions; Melanoma, Cutaneous Malignant
PubMed: 36785936
DOI: 10.1177/10781552231154460 -
Acta Dermato-venereologica Oct 2022
Topics: Child; Humans; Vitiligo; Scalp; Retrospective Studies; Hair Diseases; Hypopigmentation; Pigmentation Disorders
PubMed: 36200508
DOI: 10.2340/actadv.v102.2492 -
Pediatric Dermatology Jan 2023Cutis verticis gyrata (CVG), characterized by cerebriform overgrowth of the scalp, is rarely observed in congenital melanocytic nevi (CMN). We describe a 13-year-old...
Cutis verticis gyrata (CVG), characterized by cerebriform overgrowth of the scalp, is rarely observed in congenital melanocytic nevi (CMN). We describe a 13-year-old male with autism and a large CMN of the scalp with numerous satellite nevi whose scalp nevus exhibited evolution with poliosis and CVG. Given the potential association of CVG (independent of CMN) with seizures, neuropsychiatric, and ophthalmologic disorders, and nevus-associated CVG (cerebriform intradermal nevus) with melanoma, multidisciplinary evaluation of CMN patients with CVG is important to guide management and treatment.
Topics: Male; Humans; Adolescent; Skin Neoplasms; Scalp; Scalp Dermatoses; Nevus, Pigmented; Pigmentation Disorders; Hair Diseases
PubMed: 36178276
DOI: 10.1111/pde.15135 -
International Journal of Trichology 2022Halo nevus (HN) is benign skin condition with a central melanocytic nevus, surrounded by an area or halo of depigmentation. It is the result of immunological response of...
Halo nevus (HN) is benign skin condition with a central melanocytic nevus, surrounded by an area or halo of depigmentation. It is the result of immunological response of the body toward the nevus, which destroys the melanocytes in surrounding skin, leading to the depigmented halo. An increased frequency of HN in patients with vitiligo is observed. It is more commonly seen in children or young adults of either sex, particularly on the trunk, less commonly on the face, neck, and limbs. We present a rare case of HN which was present on the lower eyelid associated with poliosis, diagnosed with dermatoscopy.
PubMed: 35531486
DOI: 10.4103/ijt.ijt_150_20