Multiple cutaneous osteomas of the face associated with chronic inflammatory acne

Multiple miliary osteoma cutis of the face represents a rare and frequently unrecognized complication of chronic inflammatory acne. Their differentiation from microcomedones and macrocomedones may be challenging. The case of a 46-year-old Asian woman who suffered from chronic inflammatory acne is described. She had multiple papular lesions of the cheeks that did not respond to various topical and systemic therapies including oral isotretinoin. Light microscopy studies as well as ultrasound and computed tomography (CT) scan investigations demonstrated the presence of multiple osteoma cutis. Needle microincisions followed by mechanical extirpation of the bony formation resulted in a considerable cosmetic improvement of her skin disease. Knowledge of this rare complication of acne is mandatory, as its treatment is different from that of retentional and inflammatory acne and frequently relies on surgical modalities. Our novel technique consisting of needle microincisions with curettage of the lesions is simple and safe, leading to good cosmetic results.     

Osteo-nevus of Nanta: a case report and review of the Japanese literature

We reported a 58-year-old Japanese male with osteo-nevus of Nanta on his right cheek. Histological examination revealed nests of nevus cells throughout the entire dermis. Just beneath the nevus in the lower dermis, several basophilic oval-shaped membranous structures were positive with Kossa stain. No inflammatory infiltrate or foreign-body granuloma were seen. We reviewed 28 cases of osteo-nevus of Nanta reported in the Japanese literature and discussed the pathogenesis of ossification in the lesions of nevus cell nevi.     

Novel nonsense GNAS mutation in a 14‐month‐old boy with plate‐like osteoma cutis and medulloblastoma

Plate‐like osteoma cutis (PLOC) is a dermatological disorder characterized by superficial ossification and rarely occurs without any underlying tissue abnormalities or pre‐existing calcification. The hereditary form of PLOC is mainly due to inactivating mutation in the GNAS gene. Inactivating mutation of the GNAS gene is associated with several diseases, which commonly manifest heterotopic ossification and hormonal resistance; however, the development of malignant neoplasm has never been reported. Herein, we report a case of a patient with a novel nonsense mutation in the GNAS gene, who presented with concurrent PLOC and medulloblastoma.     

Primary osteoma cutis

A 13-month-old male infant with primary osteoma cutis was reported. There was no diagnostic sign of Albright's hereditary osteodystrophy in either this patient or his family. Laboratory investigations showed no abnormalities except moderate obesity (kaup index=22).     

Autosomal recessive type 2 pseudoxanthoma elasticum presenting with generalized skin laxity

Herein, we describe a sporadic case of recessive type 2 pseudoxanthoma elasticum. A 26-year-old woman without family history presented with cutis laxa-like marked wrinkling involving the whole-body and a serpiginous streak on the upper left arm. She denied any other systemic problems related to difficulty with visual acuity or vascular disease. A skin biopsy specimen from the loose skin showed the accumulation of calcified degenerated elastic fibers and foci of ossification in the dermis. Histopathological study from a serpiginous streak revealed mineralized debris that was eliminated through the epidermis, the finding consistent with elastosis perforans serpiginosa. Recessive type 2 pseudoxanthoma elasticum is very rare and the presenting case is interesting in that this patient presented with lesions of secondary ossification and elastosis perforans serpiginosa in association with pseudoxanthoma elasticum.     

Progressive extensive osteoma cutis associated with dysmorphic features: a new syndrome? Case report and review of the literature

Osteoma cutis, also called cutaneous ossification, refers to the rare occurrence of bone in the skin. It may be primary, occurring in normal skin, or secondary, occurring in disrupted skin tissue. A 42-year-old white woman presented with long-standing progressive primary osteoma cutis involving her head and neck, trunk and extremities. She had craniofacial dysmorphism with mid-face hypoplasia, including saddle nose deformity, mild to moderate generalized joint hypermobility, extensive paravertebral ossification, and disc space calcification. The differential diagnosis for this entity is presented. This phenotype may be a previously undescribed syndrome.     

Multiple miliary osteoma of the face

A case of multiple miliary osteomas of the face in a 68-year-old female with no personal history of acne or former inflammatory skin disorders is reported. The patient showed multiple painless, stone-like formations at several sites of the face. Histological, echographic and radiological investigations confirmed the presence of bone tissue in the dermal layer. Multiple miliary osteoma of the face is considered the rarest variant of primary osteoma.     

婴幼儿原发性皮肤骨瘤4例临床及病理分析

目的:探讨婴幼儿原发生皮肤骨瘤的临床病理特征。方法:大体及镜下观察,结合临床表现及X线检查并文献复习。结果:4例患儿,2男2女,年龄为5个月~4岁,临床表现为背部、颈部、腕部及腹股沟红褐色条索状及结节状皮疹,质硬。病理学特征:大体见切除皮肤局部稍高出皮面,质硬,边界清。镜检见真皮及皮下组织中见成片、成团分布的骨及骨样组织,由成熟编织骨组成,周围可见骨母细胞。结论:皮肤骨瘤指真皮或皮下组织内新骨形成,可分为原发性及继发性,该病为良性肿瘤,手术切除治疗效果好,未见恶变报道。     

Solitary Milialike Idiopathic Calcinosis Cutis: A Case Unassociated with Down Syndrome

We report a unique case of solitary milialike idiopathic calcinosis cutis (MICC) in a healthy Korean woman, which is not associated with Down syndrome. This case of MICC would be a form of idiopathic calcinosis cutis, which can be solitary or multiple, sporadic or associated with Down syndrome.     

色素异常性皮肤淀粉样变病一家系报道

患者,男,61岁。全身皮肤出现色素沉着及减退斑10年余。其父、兄与其有相同的皮疹特征。皮损组织病理示：表皮角化过度,部分上皮脚融合,棘层轻度增生,真皮浅层小血管可见淋巴细胞浸润,部分真皮乳头层可见嗜伊红团块状物质,其间可见裂隙。真皮乳头层团块状物质刚果红染色阳性。结合临床及实验室检查,诊断为色素异常性皮肤淀粉样变病。     

Milia-like Idiopathic Calcinosis Cutis Occurring in a Toddler Born as a Premature Baby

Milia-like idiopathic calcinosis cutis (MICC) is characterized by smooth, firm, whitish papules resembling milia. Histologically, it appears as a well-defined, round, basophilic nodule within the upper dermis. Although the etiology and treatment remain unclear, it may resolve spontaneously. Some cases have been associated with Down syndrome, and the mean age of MICC patients was 9.9 years old. Herein, we report a rare case of MICC that was not associated with Down syndrome. Noticeably, the patient, a toddler, was born as a premature baby and had an ischemic injury on the right foot at birth. However, the lesions appeared on both feet, including the non-injured left foot. Otherwise he was healthy. After a 21-month follow-up period, the lesions had almost disappeared without any treatment.     

Dapsone in the treatment of miliary lupus of the face

In an uncontrolled study of twelve patients with miliary lupus of the face, dapsone gave good therapeutic results. Miliary lupus of the face (MLF) is an asymptomatic papular eruption affecting the central area of the face, which runs a chronic course and involutes spontaneously with scarring. Histopathologically, the papules usually show scattered masses of tuberculoid granulomata composed of epithelioid cells, giant cells, and an encircling rim of small round mononuclear cells in the dermis. The actiology and pathogenesis of this condition are still unknown. The treatment of MLF has not been satisfactory despite the use of many topical and systemic agents. In this paper we report that dapsone has been found to be beneficial in the treatment of MLF and has accelerated its resolution in twelve patients.     

Extramedullary acute leukemia developing in a pre‐existing osteoma cutis

Primary osteoma cutis (cutaneous ossification) is an uncommon disease in which there is bone formation within the skin in the absence of a demonstrable pre‐existing condition. Osteoma cutis is a chronic and benign condition. We report a case of a 45‐year‐old man who developed extramedullary acute leukemia with a myeloid immunophenotype (myeloid sarcoma) with its initial presentation within an isolated pre‐existing osteoma cutis in the post‐auricular scalp without evidence of systemic acute leukemia or chronic myeloid stem cell disorders. The tumor was surgically excised without complications. Four months later, acute leukemia recurred in the contralateral posterior mandible and showed an immunophenotype consistent with acute lymphoblastic leukemia/lymphoma. The patient now has been treated by standard protocols for acute leukemia. The diagnosis of an extramedullary acute leukemia is challenging because of its inconsistent clinical and histopathologic presentations. Extramedullary acute leukemia developing in a pre‐existing osteoma cutis is very unusual and has not been previously reported in the literature.     

Amyloidosis cutis dyschromica in two siblings and review of the epidemiology,clinical features and management in 48 cases

Amyloidosis cutis dyschromica (ACD) is a rare form of primary cutaneous amyloidosis (PCA). There is a paucity of information in the dermatology literature to guide its diagnosis, investigation and treatment. We present two siblings with ACD and summarise the epidemiology, clinical features, natural history and treatments in 48 cases of ACD from the literature. Familial cases were more common (37) than sporadic cases. ACD is predominantly reported in those of East and South‐East Asian ethnicity (63%). The mean age of onset was 6 years in familial cases, and 23 years in sporadic cases. The clinical features of familial and sporadic ACD do not differ substantially. Pruritus was the only symptom, and was reported in 19% of all cases. There were no reported ACD cases with systemic amyloidosis. Acitretin was reported to result in improvement in seven of 10 patients treated. Routine investigation for systemic involvement is not necessary. Acitretin may be helpful.     

Neonatal osteoma cutis due to a mutation in GNAS

We describe a 4‐week‐old baby boy who presented with white firm cutaneous nodules and failure to thrive. He did not have dysmorphic features, and laboratory tests including serum calcium, phosphorous, thyroid function, and parathyroid hormone level were within normal ranges. Whole exome sequencing revealed an inactivating mutation in GNAS that was previously described as causing pseudohypoparathyroidism.     

Cutaneous angiosarcoma of the face

Cutaneous angiosarcoma is a rare tumour of vascular origin, which has a poor prognosis because of its high potential for metastasis. We report the case of a 57-year-old man with an 8-month history of a progressively enlarging, asymptomatic red patch over the left periorbital region of the face, previously diagnosed as angiolupoid leishmaniasis, insect-bites, 'cellulitis' and treated with several topical antibiotic and steroid therapy, without any improvement. A skin biopsy of the lesion was performed and histological and immunohistochemical examination revealed a pattern of poorly differentiated angiosarcoma. The peculiarity of the localization at the periorbital area and the particular clinical presentation are emphasized.