ABSTRACT
X-linked reticulate pigmentary disorder is an clinically rare hereditary pigmentary abnormal disease with unknown etiology. This paper reports the diagnosis and treatment of a case of X-linked reticular pigmentosis complicated with nystagmus. The main symptoms and signs were nystagmus, most of the skin of body with dark color, and pigmentation spots on the face, arms, chest, back, etc. Pathological results showed hyperkeratosis of the epidermis, hypertrophy of the acanthosis, normal number of melanocytes in the basal layer, and increased number of melanin particles in some areas. A small number of lymphocytes were infiltrated around the superficial vascular layer, and fungal spores were occasionally seen in the horn layer by periodic acid Schiff (PAS) staining, which was consistent with the characteristics of X-linked reticular pigment abnormalities complicated with nystagmus.
ABSTRACT
El síndrome de Laugier-Hunziker es un trastorno pigmentario adquirido poco frecuente, caracterizado por presentar lesiones hiperpigmentadas cutaneomucosas idiopáticas que pueden asociarse a melanoniquia longitudinal. A pesar de ser considerado una enfermedad benigna sin manifestaciones sistémicas ni potencial maligno, es clave realizar el diagnóstico diferencial con otros trastornos pigmentarios, en especial con el síndrome de Peutz-Jeghers. Se presenta aquí el caso de un paciente con este síndrome poco frecuente. (AU)
Laugier-Hunziker syndrome is a rare acquired pigmentary disorder that is characterized by idiopathic mucocutaneous pigmentation that may be associated with longitudinal melanonychia. Although this syndrome is considered a benign disease with no systemic manifestations or malignant potential, it is important to rule out other mucocutaneous pigmentary disorders, especially Peutz-Jeghers syndrome. We report the case of a patient with this unusual syndrome. (AU)
Subject(s)
Humans , Male , Aged , Hyperpigmentation/diagnosis , Lip Diseases/diagnosis , Skin Diseases/diagnosis , Skin Diseases/pathology , Peutz-Jeghers Syndrome/diagnosis , Hyperpigmentation/pathology , Diagnosis, Differential , Lip Diseases/pathology , Mouth Diseases/diagnosis , Mouth Diseases/pathologyABSTRACT
Dowling-Degos disease (DDD) is a rare autosomal dominant trait characterized by numerous, symmetrical, progressive and pigmented macules over the axillae, groins, face, neck, arms and trunk as well as scattered comedo-like lesions (dark dot, follicles) and pitted acneiform scars. Histopathology is diagnostic testing using a distinctive form of acanthosis, characterized by an irregular elongation of thin branching rete ridges, with a concentration of melanin at the tips. We report cases of generalized DDD in a single family with autosomal dominant penetrance. DDD can be presented in a generalized form with hypopigmented lesions instead of reticulate hyperpigmentation confined to the flexor areas. This form can be differentiated from DUH by histopathology.
Subject(s)
Humans , Arm , Axilla , Cicatrix , Diagnostic Tests, Routine , Dichlorodiphenyldichloroethane , Groin , Hyperpigmentation , Melanins , Neck , Penetrance , Skin Diseases, Genetic , Skin Diseases, PapulosquamousABSTRACT
Dowling-Degos disease (DDD) is a rare autosomal dominant trait characterized by numerous, symmetrical, progressive and pigmented macules over the axillae, groins, face, neck, arms and trunk as well as scattered comedo-like lesions (dark dot, follicles) and pitted acneiform scars. Histopathology is diagnostic testing using a distinctive form of acanthosis, characterized by an irregular elongation of thin branching rete ridges, with a concentration of melanin at the tips. We report cases of generalized DDD in a single family with autosomal dominant penetrance. DDD can be presented in a generalized form with hypopigmented lesions instead of reticulate hyperpigmentation confined to the flexor areas. This form can be differentiated from DUH by histopathology.
Subject(s)
Humans , Arm , Axilla , Cicatrix , Diagnostic Tests, Routine , Dichlorodiphenyldichloroethane , Groin , Hyperpigmentation , Melanins , Neck , Penetrance , Skin Diseases, Genetic , Skin Diseases, PapulosquamousABSTRACT
Pigmented fungiform papillae of the tongue(PFPT) is a rare benign pigmentary disorder of the tongue. In dark-skinned individuals, PFPT appears to be relatively common, whereas this entity is seldom reported in fair-skinned people and Asians. Although the relevance to systemic conditions has been suggested in several reported cases, the etiology and pathogenesis of this entity are not yet clearly defined. We report two cases of PFPT in young Korean females. Clinically both patients presented with asymptomatic pigmentary lesions confined to fungiform papillae of the tongue, which had been detected several months ago. Histopathologic findings revealed increased melanophages in the subepidermal area within the fungiform papillae.