ABSTRACT
Connective tissue nevi (CTN) , a kind of benign skin hamartomas, can be classified into 3 types according to the excessive components predominating in skin lesions, including collagen type, elastin type and proteoglycan type, and each type of CTN includes various inherited and acquired diseases. Therefore, genetic, clinical, and histopathological features should be considered for the confirmation of diagnosis of CTN and its subtypes. According to the latest Chinese and international literature, this review elaborates clinical classification and histopathological characteristics of CTN, aiming to further strengthen the understanding of this disease.
ABSTRACT
Objective To investigate manifestations of connective tissue nevi (CTN) by dermoscopy and reflectance confocal miscroscopy (RCM),and to analyze its pathological features.Methods According to the course of the disease,skin lesions of a patient with CTN were classified into 2 categories:skin lesions of less than 1-year duration and those of more than 1-year duration,which were observed by dermoscopy and RCM,and analyzed by the combination with histopathological examination.Results Dermoscopy imaging of the CTN lesions of more than 1-year duration showed grey-white maculae with clear boundaries in the center of lesions.There were white network structures,brown globules,red spots and punctiform or comma-shaped blood vessels in the gray-white macula area,and vellus hairs and dermal papillary rings could be seen sometimes.The white macula was evenly surrounded by brown to black pigments,and the boundary was clear.For the lesions of less than 1-year duration,gray-white maculae with clear boundaries were also found in the center of the lesions.Besides,there were a few scattered brown to black pigments,vellus hairs and dermal papillary rings in the gray-white macula area.RCM imaging of the lesions of less than 1-year duration or early skin lesions showed dermal papillae of different sizes and shapes crowded with each other and formed a honeycomb or cobblestone-like structure.The density and brightness of the dermal papilla ring obviously increased,and the refraction of the dermal collagen fiber bundles was also enhanced.Some of the dermal collagen fiber bundles were attached to the dermal papilla or intertwined and arranged in a whirlpool pattern.For the lesions of more than 1-year duration,the refraction of the tissue structure was weakened when the depth in Z-axis direction reached 2 to 3 millimetres due to the thickened epidermis,while the dermal collagen fiber bundles were not obvious and only a few lymphocytes could be seen.Conclusions CTN has particular characteristics in dermoscopy,and there is a definite correspondence among dermoscopy features,histopathological findings and RCM features.RCM is helpful for the diagnosis of lesions of less than 1-year duration.
ABSTRACT
Tuberous sclerosis complex (TSC) is a neurocutaneous disorder with variable manifestations. The diagnosis is based on clinical criteria, and is divided into definite, probable, and possible TSC. If patients present with mild symptoms, clinicians may hesitate to perform further evaluations because of the high economic burden. A 16-year-old male presented with multiple skin-colored papules on the lower back and buttock. The histopathologic findings were compatible with connective tissue nevi (CTN). No other findings were observed with the exception of one hypomelanotic macule on the left shin. As the patient's parents wished to confirm the diagnosis, genetic testing was performed, and a TSC1 gene mutation was detected. With this genetic result, further evaluations were performed without hesitation. Genetic testing is a sensitive and specific modality for the diagnosis of TSC. We report a case of TSC presenting with CTN only, in which genetic testing was very useful to confirm the diagnosis and to determine the appropriateness of further high-cost studies.
Subject(s)
Adolescent , Humans , Male , Buttocks , Connective Tissue , Diagnosis , Genetic Testing , Neurocutaneous Syndromes , Nevus , Parents , Tuberous SclerosisABSTRACT
Eruptive collagenoma is a rare acquired type of connective tissue nevus that predominantly consists of collagen. It usually presents as multiple, asymptomatic, firm, flesh-colored or pink nodules or plaques that are symmetrically distributed over the trunk and upper extremities. Four cases of eruptive collagenoma in linear or zosteriform arrangements have been reported in the English literature. A 16-year-old boy presented with multiple asymptomatic erythematous papules and nodules on the left side of his sternal margin and the posterior side of his left neck. A punch biopsy taken from one of the nodules on the chest showed thickened collagen fibers in the dermis. Masson-Trichrome staining revealed an increase in the collagen fibers, which were broad and arranged haphazardly, and the elastic staining indicated a reduction in the elastic fibers in the dermis, which are findings that are consistent with collagenoma. We report a case of eruptive collagenoma that presented in a linear arrangement, which is a rare distribution pattern for connective tissue nevi.
Subject(s)
Adolescent , Humans , Male , Biopsy , Collagen , Connective Tissue , Dermis , Elastic Tissue , Neck , Nevus , Thorax , Upper ExtremityABSTRACT
Comunicamos dos casos de nevo del tejido conectivo, el primero con patrón histológico mixto y el segundo con predominio de alteraciones en las fibras elásticas. No se constataron síndromes ni patología sistémica asociada. Un caso presentó disposición linear y un nevo acrómico asociado.
Two cases of connective tissue nevi are reported, one of them with a mixed histopatologic pattern and one with elastin fibers diminished. None of the patients had systemic involvement or associated syndromes. The mixed connective tissue nevi type showed a linear distribution and has associated an acromic nevi.
ABSTRACT
The osteopoikilosis is commonly known as harmatoma in which metaphyseal and epiphyseal area of long bones and the bone of pelvis, hands, feet and et al, contain islands of dense cortical bone with normal Harversian system without any symptoms. The radiologic findings of the osteopoikilosis is multitude of oval or well-circumscribed areas of increased density, 2 to 10 mm in size, in symmetrical distribution and normal uptake in bone scan. Buschke-Ollendorff syndrome, which is transmitted by autosomal dominant, is characterized by the association of osteopoikilosis and connective tissue nevi which are popular and symmetrically distributed lesions on chest, back, buttock, thigh or arm. Authors report three Buschke-Ollendorff syndrome, studied by CT scan, MRI, bone scan and bone and skin biopsy, among five patients associated with osteopoikilosis found by simple radiologic study from ten members in one family with their pedigree.