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Ann Dermatol 2020 Apr 11;32(2):159-163. Epub 2020 Mar 11.

Department of Dermatology, Gangnam Severance Hospital, Cutaneous Biology Research Institute, Yonsei University College of Medicine, Seoul, Korea.

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. Read More

Am J Ophthalmol Case Rep 2020 Sep 2;19:100855. Epub 2020 Aug 2.

Edward S. Harkness Eye Institute Columbia University College of Physicians and Surgeons, New York, NY, USA.

Purpose: We report a case a pediatric patient with an eyelid lesion found to be a basaloid follicular hamartoma.

Observations: A six-year-old female with juvenile diabetes who presented with a benign eyelid lesion harboring an aberrant eyelash.

Conclusions And Importance: Basaloid follicular hamartoma is a rare benign neoplasm arising from hair follicles. Read More

Br J Dermatol 2020 11 25;183(5):e146. Epub 2020 Jun 25.

Department of Dermatology, Royal Victoria Infirmary, Newcastle upon Tyne, UK.

Dermatol Online J 2020 Feb 15;26(2). Epub 2020 Feb 15.

School of Medicine, University of California San Diego, La Jolla, CA.

Nevus sebaceus is a benign skin hamartoma of congenital onset that grows during puberty, and in adulthood can develop secondary benign and malignant neoplasms. The most common benign neoplasms occurring in nevus sebaceus are believed to be syringocystadenoma papilliferum, trichilemmoma, and trichoblastoma. A patient with nevus sebaceus developed not only syringocystadenoma papilliferum but also prurigo nodularis within her hamartomatous lesion; multiple biopsies were necessary to establish the diagnoses. Read More

Indian Dermatol Online J 2019 Nov-Dec;10(6):710-713. Epub 2019 Nov 1.

Department of Dermatology, Venereology and Leprosy, Seth G.S. Medical College and KEM Hospital, Parel, Mumbai, Maharashtra, India.

Linear and unilateral basaloid follicular hamartoma (BFH) is a rare disease that manifests with papules and plaques with distribution along lines of Blaschko. It runs a benign course but with the risk of basal cell carcinoma (BCC) in long term course. BCC can be differentiated from BFH with histopathology and immunohistochemistry. Read More

J Cutan Pathol 2020 Mar 3;47(3):207-218. Epub 2019 Dec 3.

Department of Medicine, Mackay Medical College, New Taipei City, Taiwan.

Background: Basaloid tumors arising from seborrheic keratosis (SK) that resembled basal cell carcinoma (BCC) were infrequently observed in our patients. They also exhibited morphologic features similar to those of trichoblastoma or basaloid follicular hamartoma.

Methods: We retrospectively collected cases of SK with basaloid tumors from 2001 to 2017. Read More

Indian Dermatol Online J 2019 Sep-Oct;10(5):610-612. Epub 2019 Aug 28.

Department of Dermatology, Venereology and Leprosy, Shri B M Patil Medical College, Hospital and Research Center, BLDE (Deemed to be University), Vijayapur, Karnataka, India.

Int J Dermatol 2019 Sep 14;58(9):1037-1039. Epub 2019 Mar 14.

Department of Dermatology, Cleveland Clinic Foundation, Cleveland, OH, USA.

Ann Dermatol Venereol 2019 Mar 26;146(3):181-191. Epub 2019 Jan 26.

Clinique dermatologique, université de Strasbourg, hôpitaux universitaires de Strasbourg, 1, place de l'Hôpital, 67091 Strasbourg cedex, France.

Introduction: Basaloid follicular hamartoma (BFH) is a rare tumor first described in 1985. It bears clinical and histologic similarities with basal cell carcinoma (BCC), in particular the so-called infundibulocystic form. We performed a single-center clinicopathological study of a series of typical cases of this entity that is occasionally difficult to diagnose. Read More

Indian J Dermatol Venereol Leprol 2019 May-Jun;85(3):287-290

Department of Dermatology, School of Medicine; Department of Dermatology, School of Medicine, Connective Tissue Diseases Unit, Pontificia Universidad Católica de Chile, Santiago, Chile.

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. Read More

Pediatr Dermatol 2018 Nov 28;35(6):e396-e397. Epub 2018 Aug 28.

Department of Dermatology, College of Medicine, Drexel University, Philadelphia, Pennsylvania.

Basaloid follicular hamartoma is a relatively rare benign neoplasm of follicular origin that can be mistaken histologically for basal cell carcinoma, but hereditary forms of basaloid follicular hamartoma are associated with nevoid basal cell carcinoma syndrome, or Gorlin syndrome. The pathophysiology of basaloid follicular hamartoma development involves mutations in the patched gene, which is also causative in nevoid basal cell carcinoma syndrome. We present a mother and daughter with basaloid follicular hamartomas, with genetic testing confirming patched gene mutation in the daughter. Read More

J Clin Aesthet Dermatol 2018 Mar 1;11(3):39-41. Epub 2018 Mar 1.

Dr. Segars is with NSU-COM/Largo Medical Center Dermatology Residency in Largo, Florida.

Basaloid follicular hamartoma (BFH) is a rare, benign neoplasm of the hair follicle, characterized by multiple brown papules involving the face, scalp, and trunk. It is described by multiple clinical forms, and can present as localized or generalized. Diagnosis is made histologically via biopsy, which is important in order to distinguish BFH from basal cell carcinoma (BCC) or other malignant epithelial neoplasms. Read More

Indian J Dermatol Venereol Leprol 2019 Jan-Feb;85(1):60-64

Consultant Dermatologist, Sakhiya Skin Clinic, Surat, Gujarat, India.

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. Read More

Anticancer Res 2018 01;38(1):471-476

Dermatology Unit, Surgical, Medical and Dental Department of Morphological Sciences related to Transplant, Oncology and Regenerative Medicine, University of Modena and Reggio Emilia, Modena, Italy.

Background/aim: Nevoid basal cell carcinoma syndrome (NBCCS) is an autosomal dominantly inherited disorder characterized by multiple basal cell carcinomas (BCC), odontogenic tumors and various skeletal anomalies. Basaloid follicular hamartomas (BFHs) constitute rare neoplasms that can be detected in sporadic and familial settings as in the Basaloid Follicular Hamartoma Syndrome (BFHS). Although BFHS shares clinical, histopathological and genetic overlapping with the NBCCS, they are still considered two distinctive entities. Read More

Arch Pathol Lab Med 2017 Nov;141(11):1490-1502

From the Departments of Pathology (Drs Stanoszek, Wang, and Harms) and Dermatology (Dr Harms), University of Michigan Medical School, Ann Arbor. Drs Stanoszek and Wang contributed equally.

Context: - Basal cell carcinoma (BCC) is the most common human malignant neoplasm and is a frequently encountered diagnosis in dermatopathology. Although BCC may be locally destructive, it rarely metastasizes. Many diagnostic entities display morphologic and immunophenotypic overlap with BCC, including nonneoplastic processes, such as follicular induction over dermatofibroma; benign follicular tumors, such as trichoblastoma, trichoepithelioma, or basaloid follicular hamartoma; and malignant tumors, such as sebaceous carcinoma or Merkel cell carcinoma. Read More

J Dermatol 2017 Nov 10;44(11):e278-e279. Epub 2017 Jul 10.

Department of Dermatology, Severance Hospital, Cutaneous Biology Research Institute, Yonsei University College of Medicine, Seoul, Korea.

Pediatr Dermatol 2017 Jul 29;34(4):e196-e200. Epub 2017 Jun 29.

Department of Dermatology, Complejo Hospitalario Insular Materno Infantil de Gran Canaria, Las Palmas, Spain.

Basaloid follicular hamartoma (BFH) is a rare follicular malformation characterized by variable clinical presentations and identical histopathologic features. We present the cases of a 3-month-old boy and an 8-year-old boy with linear unilateral BFH. To the best of our knowledge, only 14 cases of linear unilateral BFH have been described in the English-language literature. Read More

Ann Dermatol 2017 Jun 11;29(3):371-373. Epub 2017 May 11.

Department of Dermatology, Ajou University School of Medicine, Suwon, Korea.

Dermatol Online J 2017 May 15;23(5). Epub 2017 May 15.

Division of Dermatology, Department of Medicine, National University Hospital, Singapore. ellie_

Basaloid follicular hamartoma (BFH) is a rare benign adnexal tumor with variable clinical presentation. We report a case of a 64-year-old man, who presented with an incidental finding of a 3mm hyperpigmented macule on his cheek. Dermoscopy revealed a structureless blue lesion. Read More

Fukuoka Igaku Zasshi 2016 08;107(8):155-60

We here describe a case of solitary basaloid follicular hamartoma (BFH) : the case developing in company with senile lentigo on the nose. BFH is a relatively rare benign follicular neoplasm of undetermined etiology. Histologically, the specimen consisted of small-sized squamoid or basaloid cells and follicular germ-like cells in the periphery of the tumor nests. Read More

Br J Dermatol 2016 Mar;174(3):e11

Al Haud Al Marsoud Dermatology Hospital, Cairo, Egypt.

J Cutan Pathol 2016 Mar 12;43(3):191-9. Epub 2015 Oct 12.

Department of Dermatopathology, Dermatologikum Hamburg, Hamburg, Germany.

Background: Cysts are very common in the routine of dermatopathology but follicular germinative (trichoblastic) differentiation in cysts is seen rarely. The presence of follicular germinative differentiation in a cyst alerts to consider the possibility of a basal cell carcinoma (BCC) arising in a cyst.

Methods: Five cystic lesions with zones of follicular germinative differentiation were collected. Read More

Postepy Dermatol Alergol 2015 Jun 15;32(3):221-4. Epub 2015 Jun 15.

Department of Dermatology, Sifa University, Izmir, Turkey. Head of the Department: Assist. Prof. Fatma Asli Hapa.

Ann Dermatol 2015 Apr 24;27(2):218-20. Epub 2015 Mar 24.

Department of Dermatology, Gangnam Severance Hospital, Cutaneous Biology Research Institute, Yonsei University College of Medicine, Seoul, Korea.

J Cutan Pathol 2014 Dec;41(12):916-21

Department of Pathology, Yale University School of Medicine, New Haven, CT, USA.

Background: Tumors with similar or identical histopathologic features have been termed basaloid follicular hamartoma (BFH) or infundibulocystic basal cell carcinoma (BCC). BCC typically lacks immunoreactivity with cytokeratin 20 (CK20) and pleckstrin homology-like domain, family A, member 1 protein (PHLDA1).

Aim: A series of BFH and infundibulocystic BCC were investigated to determine the pattern of CK20 and PHLDA1 labeling in these lesions. Read More

Korean J Radiol 2014 Jul-Aug;15(4):534-7. Epub 2014 Jul 9.

Department of Radiology, Mersin University Faculty of Medicine, Mersin 33070, Turkey.

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. Read More

Am J Dermatopathol 2015 Mar;37(3):e37-40

*Rutgers-Robert Wood Johnson Medical School, New Brunswick, NJ; †Department of Dermatology, Dermatology Cosmetic and Laser Center, Massachusetts General Hospital, Harvard Medical School, Boston, MA; ‡Department of Medicine-Division of Dermatology, UC San Diego, San Diego, CA; §Department of Dermatology, UC Irvine, Irvine, CA; ¶RBGB Dermatology, Santa Ana, CA; and ‖Laguna Pathology Medical Group, Laguna Beach, CA.

Basaloid follicular hamartoma (BFH) is a rare, generally benign lesion of importance because of its clinical and histopathological similarity to infundibulocystic basal cell carcinoma. Autosomal dominant generalized BFH syndrome is 1 of the 5 clinical forms of BFH that has been described in the literature. We report a case of BFH syndrome in a 47-year-old Hispanic female who presented with an increasing number of small 1- to 2-mm tan to brown smooth facial papules, few palmar pits, and cobblestoning of the tongue. Read More

Clin Exp Dermatol 2013 Dec;38(8):862-5

Department of Dermatology, Chang Gung Memorial Hospital, Keelung, Taiwan; Chang Gung University College of Medicine, Taoyuan, Taiwan.

Happle-Tinschert syndrome (HTS) is a rare syndrome characterized by segmentally arranged basaloid follicular hamartomas (BFH) associated with ipsilateral osseous, dental and cerebral abnormalities. Happle and Tinschert first reported this disorder in 2008, and three cases with similar presentations have since been reported. We report another case, that of a 40-year-old man, presenting with the characteristic clinical features of HTS. Read More

Ophthalmic Plast Reconstr Surg 2012 Sep-Oct;28(5):e127-30

David G Cogan Laboratory of Ophthalmic Pathology, Massachusetts Eye and Ear Infirmary and Harvard Medical School, Boston, Massachusetts 02114 , USA.

An 86-year-old woman slowly developed a solitary 0.3 3 0.2-cm papule on the left lower eyelid. Read More

Dermatology 2012 9;224(2):97-100. Epub 2012 Mar 9.

Department of Internal Medicine, Oldness and Nephrologic Diseases, Dermatology, University of Bologna, Bologna, Italy.

Background: Focal dermal hypoplasia (FDH) or Goltz syndrome is a rare genetic multisystem disorder characterized by hypoplasia of ectodermally and mesodermally derived tissues. No cases of development of basal cell carcinomas in patients affected by FDH have previously been reported.

Methods: We followed a 38-year-old woman with FDH who developed, within a period of 3 years, 14 atypical pigmented lesions. Read More