A 'Full House' Glomerulopathy in a Patient with Multiple Lentigines Syndrome: A Case Report / Glomerulopatía 'full house' en un paciente con síndrome de lentigos múltiples: un reporte de caso

ABSTRACT Multiple lentigines syndrome (MLS) is an autosomal dominant disease which is usually diagnosed clinically by the presence of characteristic features. The molecular genetic testing is an adjuvant diagnostic tool to identify the mutation of particular genes such as PTPN11 genes, RAF1, BRAF or MAP2K1 genes. This syndrome was formerly known as LEOPARD syndrome or Noonan syndrome with multiple lentigines. 'LEOPARD syndrome ' is an acronym of characteristic features (Lentigines, Electrocardiographic conduction abnormalities, Ocular hypertelorism, Pulmonary stenosis, Abnormalities of the genitalia, Retardation of growth, and Deafness). There was no previous case report about any glomerulonephropathy in association with MLS. We present a case of a patient with MLS with recurrent nephrotic syndrome who was found to have histologic evidence of 'full house ' glomerulopathy.

RESUMEN El síndrome de lentigos múltiples (SLM) es una enfermedad autosómica dominante que de modo general se diagnostica clínicamente por la presencia de rasgos característicos. La prueba genética molecular es una herramienta de diagnóstico auxiliar utilizada para identificar la mutación de genes específicos tales como los genes PTPN11, RAF1, BRAF, o los genes MAP2K1. Este síndrome se conocía anteriormente como síndrome del leopardo o síndrome de Noonan con múltiples lentigos. El síndrome toma su nombre del acrónimo en inglés LEOPARD, que describe sus rasgos característicos (L lentigos; E conducción electrocardiográfica de las anormalidades; O hipertelorismo ocular; P estenosis pulmonar; A anormalidades de los genitales; R retardo del crecimiento; y D deafness, 'sordera ' en inglés), y que fuera introducido por Gorlin et al en 1969. No existía ningún reporte de caso anterior sobre glomerulonefropatía asociada con SLM. Presentamos el caso de un paciente con SLM con síndrome nefrótico recurrente en el que se halló evidencia histológica de glomerulopatía 'full house'.

LEOPARD Syndrome with PTPN11 Gene Mutation Showing Six Cardinal Symptoms of LEOPARD

LEOPARD multiple congenital anomaly syndrome inherited in an autosomal dominant manner. LEOPARD is an acronym for Lentigines, Eletrocardiographic conduction defects, Ocular hypertelorism, Pulmonary valve stenosis, Abnormalities of the genitalia, Retardation of growth, and Deafness. Clinical diagnosis is primarily based on multiple lentigines, typical facial features, and the presence of hypertrophic cardiomyopathy and/or cafe-au-lait macules. We report a typical case of LEOPARD syndrome with PTPN11 gene mutation associated with lentigines, electrocardiograph abnormality, ocular hypertelorism, pulmonary valve stenosis, growth retardation, and sensorineural hearing loss.

A Case of LEOPARD Syndrome / 대한피부과학회지

LEOPARD syndrome is an autosomal dominantly inherited multiple congenital anomaly syndrome with high penetrance and a markedly variable expression. LEOPARD is an acronym of lentigines, electrocardiographic conduction defects, ocular hypertelorism, pulmonary stenosis, abnormalities of the genitalia, retardation of growth, and deafness. We report a typical case of LEOPARD syndrome which developed in an 11-year-old girl who had symptoms of lentigines, EKG abnormality, ocular hypertelorism, pulmonary stenosis, growth retardation, and sensorineural hearing loss.

A Case of Multiple Lentigines Sydrome with a Family History of Multiple Lentigines / 대한피부과학회지

Multiple lentigines syndrome is an autosomal dominant disorder of variable penetrance and expressivity. LEOPARD has been used to describe the main features of the syndrome, including lentigines, electrocardiographic abnormalities, ocular hypertelorism, pulmonary stenosis, abnormalities of genitalia, retardation of growth and deafness. We describe a case of multiple lentigines syndrome with a family history of multiple lentigines. A 15-year-old boy presented with multiple brown macules and patches on the whole body, which had developed since the age of 3. He also had hypertrophic cardiomyopathy, EKG abnormalities and retarded growth. His maternal grandfather, maternal uncle and mother also presented with multiple brown macules scattered over the body. The biopsy specimen taken from the macule revealed elongated rete ridges, increased melanin deposition and increased number of melanocytes.

Two Cases of Agminated Lentigines / 대한피부과학회지

Agminated lentigines is characterized by numerous lentigines confined to a body segment, with a sharp demarcation at the midline. We report two cases of agminated lentigines, which were of asymmetric distribution on one side of the body, in a 16-year-old girl and a 27-year-old woman. The Lesions of the first patient were zosteriform, they involved the left side of the chest, axilla and shoulder. Lesions of the second case were involved on the left side of the abdomen and flank. Histologic examination showed hyperpigmentation of the basal layer, elongation of rete ridges, and an increased number of melanocytes.

A Case of Multiple Lentigines Syndrome

The multiple lentigines syndrome or LEOPARD syndrome is an autosomal dominantly inherited disorder with a variety of abnormalities and a familial occurrence. This syndrome is characterized by the presence of numerous dark brown macules on the skin but not the mucous surface, and by a marked increase in the number of lentigines from birth to puberty. The eponym LEOPARD stands for lentigines, EKG abnormalities, ocular hypertelorism, pulmonary stenosis, abnormalities of the genitalia, retardation of growth and deafness. We report a case of multiple lentigines syndrome in 7-year-old boy. He had numerous pinhead to pea sized, dark brownish macules scattered on the entire body and also had pulmonary stenosis, EKG abnormality, ocular hypertelorism and right exotropia. Interestingly, he also had a labial melanotic macule on the lower lip, which is usually spared in the multiple lentigines syndrome. Histologically, the biopsy specimen taken from the macule revealed an elongation of rete ridges, an increase of melanin pigments in the basal layer and mild inflammatory infiltrates intermingled with the melanophages in the upper dermis.

Five Cases of Agminated Lentigines / 대한피부과학회지

Agminated lentigines may be defind as a circumscribed grouping of small pigmented macules arranged in a small or large group, often in a segmental pattern, each macule consisting of a lentiginous epidermal proliferation of melanocytes. We report five cases of agminated lentigines in otherwise healthy persons. Histologic exarnination of the pigmented lesion revealed findings consistent with lentigo simplex.

Photochemotherapy-induced Lentigines on a Vitiliginous Patch Electron Microscopic Observations

Patients with vitiligo seem be less prone to the development of lentigines as a side effect of long-term photochemotherapy than do psoriatics. An 8-year-old boy who had a vitiliginous patch on his left thigh, had been receiving photochemotherapy since he was 2 years old. At the age of 3, multiple star-shaped brownish macules developed at the site of treatment. Photochemotherapy was continued until the patient was 6 year old, at which time no improvement in the vitiligo was seen, so photochemotherapy was discontinued. Now 2 years after treatment the lentigines still persist. On electron microscopic examination, the melanocytes showed two patterns of cell death: coagulative necrosis and apotosis together with atypical cytoplasmic and melanosomal alterations.

A Case of Multiple Lentigines Syndrome / 대한피부과학회지

We report a case of multiple leatiginea syndrome in an 8 year old boy. He had numeroua lentigines acattered over his face, trunk, buttock and thlghe, and eome larger black macular leeians on the trunk and thighs. Gn phyaiaal examinatlon, he wae well developed but he had ocular hyperteloriem. Chest roentgenogram showed hypertrophy of both ventricles. Electrocardiogram and audiogram revealed conduction defects and severe sensorineural deafness, reepectively. Blopsy af dark brown lesion from the back showed the histopathologlc pattern of lentigo.