A 2-month-old male with surgically resected sacral chordoma presented with multiple hypopigmented macules showing characteristic patchy, sharply demarcated areas of pigment network on dermoscopy. These dermoscopic findings were suggestive of the ash-leaf macules of tuberous sclerosis over other common hypopigmented macules in neonates. Chordomas presenting in early childhood in the sacral location have been reported as a rare manifestation of tuberous sclerosis complex. The combination of these findings led to a diagnosis of tuberous sclerosis, confirmed with the finding of a heterozygous TSC2 gene deletion; treatment with sirolimus resulted in regression of cardiac rhabdomyomas and hypopigmented macules.
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http://dx.doi.org/10.1111/pde.15581 | DOI Listing |
Am J Dermatopathol
December 2024
Department of Medicine, MacKay Medical College, New Taipei City, Taiwan; and.
Disseminated hypopigmented keratosis is a rare distinct clinical entity. This report describes the case of a 19-year-old male patient who developed disseminated hypopigmented keratosis 2 months after autologous hematopoietic stem cell transplantation for pineal choriocarcinoma. The patient displayed numerous tiny whitish or depigmented macules and papules on the chest, back, posterior neck, shoulders, arms, and thighs, closely resembling lichen nitidus.
View Article and Find Full Text PDFBMJ Case Rep
November 2024
Department of Dermatology, All India Institute of Medical Sciences, Jodhpur, Rajasthan, India.
Nat Commun
November 2024
Department of Pharmaceutical Sciences, St. Jude Children's Research Hospital, Memphis, TN, USA.
ABCB6 has been implicated in dyschromatosis universalis hereditaria, a condition characterized by hyperpigmented and hypopigmented skin macules. Dyschromatosis universalis hereditaria can also present with hearing loss. Dyschromatosis universalis hereditaria-associated mutations in ABCB6 have been reported, but the role of this protein in the inner ear has not been studied.
View Article and Find Full Text PDFRev Med Inst Mex Seguro Soc
May 2024
Instituto de Seguridad y Servicios Sociales de los Trabajadores del Estado, Hospital Regional "Dr. Manuel Cárdenas de la Vega", Servicio de Dermatología. Culiacán, Sinaloa, México.
Background: Hypopigmented mycosis fungoide (HMF) is a rare variant of cutaneous T-cell lymphoma of unknown pathogenesis. It is the most common cutaneous lymphoma in childhood. It is characterized by hypopigmented macules in non-photoexposed areas, generally asymptomatic.
View Article and Find Full Text PDFJ Cutan Aesthet Surg
August 2023
Department of Dermatology, Venereology and Leprosy, Shri B M Patil Medical College, Hospital and Research Center, BLDE (Deemed to be University), Vijayapur, India.
Vitiligo is an acquired depigmenting disorder due to the destructive loss of melanocytes, clinically presenting as hypopigmented or depigmented macules and/or patches. Many theories have been proposed to explain its etiopathogenesis among which cell-mediated immunity is one of the crucial links. Estimation of vitiligo activity and extent in a patient is important in tailoring an optimal treatment regimen.
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