ABSTRACT
Acanthosis nigricans (AN) is characterized by velvety hyperpigmented plaques, usually observed in skin folds. The different types of the condition include obesity-associated, syndromic, drug-induced, malignancy-related, and other types of AN. AN, an FGFR3 gene mutation-related disease, is associated with varying degrees of skeletal disorders. FGFR3 gene mutations are known to cause excessive inhibition of chondrocyte growth and keratinocyte proliferation, which is responsible for AN development. To our knowledge, only a small number of cases of AN with hypochondroplasia due to FGFR3 gene mutation (p.Lys650Thr) have been described in the literature. However, there are no reports of genetically confirmed AN with hypochondroplasia in Korea. Physicians should consider syndromic AN when symptoms develop at an early age or when associated skeletal anomalies are present.
ABSTRACT
Weathering nodules are benign skin conditions of the ear typically occurring in patients with a history of persistent sun exposure. Clinically, they appear as multiple localized, skin-colored to whitish papules or nodules in the ear helix. Histopathologically, weathering nodules are characterized by chondroid metaplasia with spurs of fibrous tissue extending upward from the disrupted perichondrium of the underlying pinna cartilage. We report the case of a 19-year-old man who presented with multiple localized whitish papules on the right ear helix for a month. The lesions were asymptomatic and accompanied by a blanch sign. Histopathological examination revealed chondroid metaplasia in the dermis, separate from the pinna cartilage. Based on the clinicopathological findings, weathering nodules of the ear was diagnosed.
ABSTRACT
Hystrix-like ichthyosis and deafness (HID) syndrome is a rare ectodermal dysplasia characterized by erythrokeratoderma and hearing impairments. HID syndrome is a nonocular variant of keratitis ichthyosis deafness (KID) syndrome caused by an autosomal dominant mutation in the gap junction protein β 2 (GJB2) gene. The GJB2 gene encodes connexin 26, a transmembrane protein involved in cell–cell attachment in almost all tissues. We report a case of a 25-year-old man with generalized hyperkeratotic plaques, diffuse palmoplantar keratoderma, and nail deformities since birth. The patient also had a history of recurrent bacterial skin infections in the existing hyperkeratotic lesions. Histopathological examination revealed compact hyperkeratosis and irregular acanthosis in the epidermis, along with upper dermal lymphocytic infiltration. Audiometry revealed high-frequency sensorineural hearing loss. Genetic analysis revealed a missense mutation in the GJB2 gene. Based on clinicopathological findings and genetic testing, HID syndrome was diagnosed.
ABSTRACT
Cutaneous pseudolymphoma, also referred to as cutaneous lymphoid hyperplasia or lymphocytoma cutis, is an uncommon lymphoproliferative condition. Most lesions are idiopathic in origin; however, triggers such as tattoos, acupuncture, or venipuncture are known to be associated with pseudolymphomas. Owing to the widespread popularity of cosmetic piercings, post-piercing pseudolymphomas are being reported in recent times. Anatomically, most lesions appear on the ears and present with a variety of morphological features, although diagnosis is based on distinctive clinical findings. In this case series, we report four cases of post-piercing pseudolymphoma on the earlobe together with a literature review. We emphasize close and careful monitoring to differentiate this rare condition from other lesions of the earlobe. In view of the diverse clinical presentations and treatment approaches available for pseudolymphomas, we highlight some preliminary clinical indicators to enable early diagnosis and prompt treatment of this condition.
ABSTRACT
Cutaneous pseudolymphoma, also referred to as cutaneous lymphoid hyperplasia or lymphocytoma cutis, is an uncommon lymphoproliferative condition. Most lesions are idiopathic in origin; however, triggers such as tattoos, acupuncture, or venipuncture are known to be associated with pseudolymphomas. Owing to the widespread popularity of cosmetic piercings, post-piercing pseudolymphomas are being reported in recent times. Anatomically, most lesions appear on the ears and present with a variety of morphological features, although diagnosis is based on distinctive clinical findings. In this case series, we report four cases of post-piercing pseudolymphoma on the earlobe together with a literature review. We emphasize close and careful monitoring to differentiate this rare condition from other lesions of the earlobe. In view of the diverse clinical presentations and treatment approaches available for pseudolymphomas, we highlight some preliminary clinical indicators to enable early diagnosis and prompt treatment of this condition.
ABSTRACT
Acute graft-versus-host disease (GVHD) is a common complication associated with bone marrow transplantation. In the rare cases where it occurs after solid organ transplantation, including that of the liver, pancreas, or heart, it often has fatal outcomes. A 50-year old man developed whole-body flaccid vesiculobullous eruption 6 weeks after living donor liver transplantation. Skin biopsy revealed epidermal necrosis with vacuolization of the basal layer and lymphocytic infiltration in the dermis. Stomach erosions were found during an endoscopy, and a concurrent biopsy revealed severe epithelial necrosis. GVHD was diagnosed, with mixed chimerism confirmed using short tandem repeat testing. Immunosuppressive agent therapy was instituted, but the patient expired from hematologic complications and brain damage 6 weeks after treatment initiation. Skin lesions in GVHD generally appear with erythematous maculopapular eruption, but some atypical cutaneous manifestations could be unnoticed by physicians. This report describes miliaria crystallina-like eruption of acute GVHD after liver transplantation.