Happle-Tinschert Syndrome: A Case Report of Unilateral Segmentally Arranged Basaloid Follicular Hamartoma with Scoliosis and Review of Literature

Happle-Tinschert syndrome is a rare disease characterized by unilateral, segmentally arranged basaloid follicular hamartoma (BFH) with osseous, dental, and cerebral anomalies. Although BFH has been demonstrated to be associated with mutations in the patched gene, the genetic basis for Happle-Tinschert syndrome is still unknown. We describe a case of Happle-Tinschert syndrome in a 26-year-old female. The patient presented with unilateral skin color change to brownish papules and atrophoderma following the development of Blaschko's lines, plantar pitting, and nail dystrophy on the right side of the body. She also had scoliosis, hemihypotrophy, and dental anomalies. The skin lesions were histologically confirmed as BFHs. Next-generation sequencing of the patient's genomic DNA obtained from a peripheral blood sample identified no pathogenic mutation. This case illustrates the characteristic clinical features of Happle-Tinschert syndrome. Thus far, 14 cases of Happle-Tinschert syndrome have been reported, and we report another case of this syndrome.

Cutaneous inflammation as a marker of malignant transformation in a patient with linear unilateral basaloid follicular hamartoma

Basaloid follicular hamartoma is a rare, benign and superficial malformation of hair follicles, characterized histologically by epithelial proliferation of basaloid cells with radial disposition. It can be mistaken for basal cell carcinoma. Even though these hamartomas are considered benign lesions, malignant transformation has rarely been reported. We report the case of a 45-year-old healthy woman, with linear, unilateral basaloid follicular hamartoma which developed inflamed papules histologically suggestive of basal cell carcinoma. We believe that identification of local inflammation could be a clinical clue to guide us towards a malignant transformation of basaloid follicular hamartoma.

Localized unilateral basaloid follicular hamartoma along Blaschko's lines on face

Basaloid follicular hamartoma (BFH) is a rare hamartoma of hair follicle. Clinical presentations may vary but are united by the same histopathological features in the form of folliculocentric basaloid or squamoid cell proliferation in the superficial dermis, which represents malformed and distorted hair follicles. It is important to recognize this entity as its simulant is basal cell carcinoma, a low-grade malignancy. Here, we report a case of localized unilateral BFH in a Blaschkoid distribution on the face of a 14-year-old female.

Happle-Tinschert Syndrome: Report of a Case with Hemimegalencephaly

Happle-Tinschert syndrome is a disorder causing unilateral segmentally arranged basaloid follicular hamartomas of the skin associated with ipsilateral osseous, dental and cerebral abnormalities including tumors. Although a case with hemimegalencephaly was previously described, this is the first report of Happle-Tinschert syndrome with discrepant short left leg, ipsilateral skin lesions, hemimegalencephaly and frontal polymicrogyria.

A Case of Basaloid Follicular Hamartoma

Basaloid follicular hamartoma (BFH), uncommon rare benign neoplasm connected to the adnexal structures, presents with multiple clinical manifestations that can develop into basal cell carcinoma. BFH may be congenital or acquired, and the congenital form can be further divided into the generalized and unilateral type, and the acquired form may present as localized and solitary lesions. Congenital, generalized BFH is associated with systemic diseases such as alopecia, cystic fibrosis, hypohidrosis, and myasthenia gravis. In contrast, sporadic cases are observed as unilateral or localized lesions. BFH shows thick cords and thin strands of anastomosing basaloid proliferations that arise from hair follicles and are enclosed by loose fibrous stroma. Here, we report a 70-year-old man with an acquired, solitary form of BFH.

A Case of Familial Basaloid Follicular Hamartoma Syndrome / 대한피부과학회지

Basaloid follicular hamartoma is a benign adnexal tumor consisting of basaloid cells with follicular differentiation. It can present as a solitary lesion, multiple lesions, or an autosomal dominant inherited syndrome (basaloid follicular hamartoma syndrome). Basaloid follicular hamartoma syndrome is a rare adnexal tumor genodermatosis, which is characterized by autosomal dominant inheritance, histologically proven basaloid follicular hamartomas and associated findings including hypotrichosis, palmar/plantar pitting and hypohidrosis, etc. Herein, we report a case of 4-year-old girl with familial generalized basaloid follicular hamartoma syndrome.

A Case of Basaloid Follicular Hamartoma Combined with Basal Cell Epithelioma / 대한피부과학회지

Basaloid follicular hamartoma(BFH) is a rare, benign adnexal tumor with a wide clinical appearance spectrum. A characteristic finding is multifocal islands in the papillary dermis and branching cords of basaloid epithelial cells in continuity at various sites with the basal layer of the epidermis and the hair follicles. We present a case of basaloid follicular hamartoma combined with basal cell epithelioma that developed on the tip of the nose in a 75-year-old man. To our knowledge, this is the first case report of basaloid follicular hamartoma combined with basal cell epithelioma in the Korean literature.

A Case of Basaloid Follicular Hamartoma / 대한피부과학회지

Basaloid follicular hamartoma (BFH) is a benign adnexal tumor with a wide spectrum of clinical appearance and is characterized histologically by the presence of branching cords and thin strands of undifferentiated anasomosing, basaloid proliferations that are embedded in a fibrous stroma. It has been often misdiagnosed and treated as basal cell carcinoma. We report a 57-year-old woman with BFH on the face which is similar to basal cell carcinorna clinically that turned out to be a solitary BFH histologically. There has been no recurrence during one year of follow up after excisional biopsy.

Infantile Myofibromatosis(Congenital Generalized Fibromatosis): Associated with multiple congenital malformations and basaloid follicular hamartomas in the skin

Infantile myofibromatosis with systemic involvement is a very rare disease and is characterized by numerous nodules composed of spindle cells of a myofibroblastic nature. There are often disseminated throughout the subcutis, muscle, skeleton and viscera. We report an autopsy case of infantile myofibromatosis in a stillborn female fetus of 32 weeks of gestation. The nodules, Imm to 2 cm, were found over the whole body and viscera. The involved viscera were the heart, tongue, esophagus, gastrointestinal tract, portal areas of the liver, spleen anc pancreas. There were also associated malformations, viz., frontal meningoencephalocele, flexion defer-mities, syndactyly, cleft palate, agenesis of corpus callosum, pachygyria, diaphragmatic hemia, renal hypoplasia, etc. Multiple basaloid follicular hamartomas of the skin were noted on the face and extremeties. There are no previous reports in the literature of infantile myofibromatosis in conjunction with the above skin lesion and congenital malformations.