Family History Of Similar Lesions Research Articles

Dermoscopy of Cylindroma in Fitzpatrick Type IV Skin: A Case Report and Review of Literature.

Dermoscopy of Cylindroma in Fitzpatrick Type IV Skin: A Case Report and Review of Literature.

A Unique Presentation of Multicentric Myofibromatosis in the Masseter Muscle of a Pediatric Patient.

A 12-year-old female with a history of multicentric infantile myofibromatosis (IM) presented with a tender, enlarging cheek mass and trismus. Imaging identified an intramasseteric tumor. Given the unknown etiology of the tumor and her bothersome symptoms, the mass was excised using a transoral approach with concurrent facial nerve monitoring. Her pathology report confirmed the diagnosis of a myofibromatosis lesion embedded within the masseter muscle. While IM can often present with lesions in the head and neck region, the intramasseteric location is rare and presents unique considerations for surgical approach. Myofibromatosis lesions typically occur before two years of age, although there are some rare documented cases of multicentric myofibromatosis lesions presenting at older ages. Furthermore, this patient's family history of similar lesions suggests a familial variant, which may have implications for disease behavior and need for further work-up, monitoring, and management. Overall, this was an unusual presentation of IM given the patient's age, prevalent family history, and the location of the mass. This case report adds to the literature and discusses the clinical differential of a pediatric cheek mass, the surgical considerations for an intramasseteric tumor, and the natural history of infantile myofibromatosis.

Penile porokeratosis mimicking annular lichen planus

Sir, Porokeratosis is a group of cutaneous diseases presented by epidermal keratinization [1]. Herein, we report the case of a patient with porokeratosis who responded well to carbon dioxide (CO2) laser therapy. A 22-year-old Vietnamese male visited our department with an asymptomatic plaque on the penis present for three months. He denied a family history of similar lesions. A cutaneous examination of the penis revealed an annular, well-circumscribed plaque with slightly raised borders with scales (Fig. 1a). Other mucocutaneous lesions were absent. Fungal microscopy, a rapid plasma reagin (RPR) test, and a Treponema pallidum hemagglutination (TPHA) test were negative. Histological findings revealed a hyperkeratotic lesion with a discrete parakeratotic column. There was the presence of a cornoid lamella, which was a parakeratotic column overlying a small vertical zone of dyskeratotic and vacuolated cells within the epidermis (Fig. 2a). There was also a focal loss of the granular layer. A mild lymphocytic infiltrate could be seen around an increased number of capillaries in the underlying dermis (Fig. 2b). CO2 laser removal was performed. There was no recurrence after a twelve-month follow-up (Fig. 1b). However, a hypopigmented scar was seen. Porokeratosis is an uncommon disorder of keratinization with clinical variants, such as classical porokeratosis of Mibelli, disseminated superficial actinic porokeratosis, linear porokeratosis, and porokeratosis palmaris et plantaris disseminata [2]. Porokeratosis involving the genital areas and other adjacent sites is rare [2]. Genital porokeratosis was first described by Helfman in 1985 [3]. More than 69 cases have been reported in the literature [1]. The pathophysiology of genital porokeratosis remains unknown. It has been supposed that porokeratosis is linked to repeated minor frictional trauma. A benign lesion may transform into squamous cell carcinoma or basal cell carcinoma [4]. However, no malignant transformation of genital porokeratosis has been noted in the literature. Genital porokeratosis manifests itself clinically as classic or plaque-type porokeratosis of Mibelli [2]. Histological findings revealed a cornoid lamella with the absence of a granular layer and dyskeratotic cells in the upper spinous zone [2]. Our case may mimic some annular lesions, such as secondary syphilis, fungal infection, and annular lichen planus. Because a fungal examination and syphilis serology were negative, we could exclude fungal infection and annular secondary syphilis. The distinctive histology of porokeratosis such as a cornoid lamella with a decreased granular layer may help to differentiate between porokeratosis and annular lichen planus [4]. Numerous therapeutic methods of treatment exist, including surgical excision, CO2 laser, cryotherapy, topical retinoids, 5% 5-fluorouracil, vitamin D3 analogs, imiquimod cream, and 3% diclofenac gel [2,5].

A case of spiny keratoderma associated with chronic kidney disease

Dear Editor, A 72‐year‐old woman presented with a 3‐year history of numerous asymptomatic pinpoint keratotic lesions localised to bilateral palms with infrequent lesions to bilateral plantar feet. The patient reported no other dermatological history and family history of similar lesions and denied prior arsenic exposure. Her past medical history was significant for type 2 diabetes mellitus, chronic kidney disease stage 3B secondary to diabetic nephropathy, hypertension, dyslipidaemia and hypothyroidism.

Asymptomatic plantar nodules in a 1-year-old healthy girl

A healthy 1-year-old girl presented to our dermatology clinic with bilateral asymptomatic planter nodules that were noticed by her parents at 1 month of age. There was no family history of similar lesions. On examination, there were bilateral, soft, skin-colored, nontender, mobile nodules over the medial plantar surface of both feet measuring around 1.5 × 0.5 cm (Fig 1). Ultrasound examination of the plantar surfaces found increased subcutaneous focal fatty deposition at the site of skin nodules.

Acquired sessile conjunctival capillary haemangioma in an adult managed with topical timolol

A 19-year-old woman presented to the ophthalmology outpatient department with complaints of a reddish mass in her right eye for the past 6 months. There was no history of any...

WHITE SPONGE NEVUS: CASE REPORT WITHOUT A FAMILY HISTORY

White sponge nevus (WSN) is a rare autosomal dominant disorder with variable expressivity and high penetrance. Oral mucosa is the most affected region. Usually, this entity occurs at birth or later in childhood or adolescence. A 42-year-old man complained of white, asymptomatic lesions, which were present for more than 3 years. No family history of similar lesions was reported. Intraoral examination revealed nonremovable, symmetric, diffuse white plaques, all over the buccal mucosa, bilaterally, with a corrugated surface. An incisional biopsy was performed and histopathologic analysis revealed stratified squamous epithelium, with hyperparakeratosis, an extensive area with acanthosis and keratotinocytes with perinuclear eosinophilic condensation. Based on clinical and microscopic aspects, the diagnosis made was WSN. Further material was collected for cytopathologic examination in order to confirm the diagnosis. Treatment is not necessary due to the benign nature of WSN. Correct diagnosis is important to exclude other more serious lesions with similar characteristics. White sponge nevus (WSN) is a rare autosomal dominant disorder with variable expressivity and high penetrance. Oral mucosa is the most affected region. Usually, this entity occurs at birth or later in childhood or adolescence. A 42-year-old man complained of white, asymptomatic lesions, which were present for more than 3 years. No family history of similar lesions was reported. Intraoral examination revealed nonremovable, symmetric, diffuse white plaques, all over the buccal mucosa, bilaterally, with a corrugated surface. An incisional biopsy was performed and histopathologic analysis revealed stratified squamous epithelium, with hyperparakeratosis, an extensive area with acanthosis and keratotinocytes with perinuclear eosinophilic condensation. Based on clinical and microscopic aspects, the diagnosis made was WSN. Further material was collected for cytopathologic examination in order to confirm the diagnosis. Treatment is not necessary due to the benign nature of WSN. Correct diagnosis is important to exclude other more serious lesions with similar characteristics.

Speckled Acral Hypopigmentation: A New Pigmentary Disorder or an Unknown Presentation of a Known Disorder?

Sir, Reticulate pigmentary disorders are a broad group of pigmentary disorders with significant overlap, often posing a diagnostic challenge due to variable phenotypic expression of similar gene defects. The acral reticulate pigmentary disorders described so far including reticulate acropigmentation of Kitamura, Dowling–Degos disease, and acropigmentation of Dohi are characterized by the presence of hyperpigmented macules with or without hypopigmented lesions. Here, we describe a patient presenting with only hypopigmented macules in a speckled pattern on acral sites. A 17-year-old boy presented with a 2-year history of asymptomatic hypopigmented to depigmented macules on the dorsae of hands and feet. On examination, there were multiple, small (1–3mm), well-defined hypopigmented to depigmented macules symmetrically over the dorsae of hands and feet with prominent clustering over the sides. Lesions were mostly discrete, coalescing at few places, and present over a normal background skin, thus giving a speckled appearance [Figure 1a]. There were no hyperpigmented or atrophic macules, no palmar pits or break in dermatoglyphics, and no involvement of flexures. The patient was otherwise healthy with no significant medical history. He was born of nonconsanguineous marriage with no similar history in family.Figure 1: (a) Symmetric involvement of bilateral dorsae of hands and feet in form of multiple, small (1–3-mm sized), well-defined hypopigmented macules with prominent clustering over the sides. (b) Histopathology showing macromelanosomes in melanocytes as well as in keratinocytes (H and E, ×400). (c and d) Fontana-Masson and HMB-45 staining showing similar findings (×100, ×200)Two biopsies done from the hypopigmented macules of both hands showed similar features. The number of melanocytes were normal but there were a striking number of macromelanosomes in melanocytes and keratinocytes [Figure 1b]. Fontana-Masson and HMB-45 staining showed similar findings [Figure 1c and d]. Reticulate pigmentary disorders are an evolving group of dermatoses with a recent report of unusual clinical presentation as “speckled acral hypopigmentation.”The term familial was used by authors to describe a case similar to ours where a 14-year-old girl presented with speckled hypopigmentation on the sides of hands and feet bilaterally with a strong family history of similar lesions. Histopathological evaluation in this patient showed decreased number of melanocytes.[1] Congenital symmetric acroleukopathy has been described in literature, but here depigmented macules are large and present over periungual areas.[2] Reticulate acropigmentation of Kitamura is characterized by the presence of well-defined atrophic hyperpigmented macules on the dorsum of hands and feet, palmar pits, and break in dermatoglyphics.[3] Rare cases of disseminated hypo- or depigmented macules and papules are described, but presence of only hypopigmented macules is not seen in this condition.[4] Dowling–Degos disease is characterized by the presence of hyperpigmented macules over the flexures along with comedonal papules on the back and neck.[3] Rarely, Dowling–Degos disease presenting as hypopigmented macules similar to our case has been described, but in this case lesions were widely distributed over the chest, back, axilla, upper arms, and inguinal folds and there was no clustering of lesions.[5] Acropigmentation of Dohi shows presence of both hyper and hypopigmented macules on the hands and feet, which may extend to the proximal extremities and face. Extragenital lichen sclerosus is a chronic inflammatory disorder characterized by the presence of small, porcelain white, mildly atrophic polygonal papules and plaques which commonly affects neck, shoulders, and upper portion of the trunk.[6] Confetti or guttate form of hypomelanotic macules seen in tuberous sclerosis patients present as 1–3 mm, numerous, small hypopigmented macules that typically occur symmetrically over the distal extremities. These hypopigmented macules usually develop during early childhood. Over time, these patients develop other characteristic cutaneous and systemic features of tuberous sclerosis.[7] None of the above described differential diagnosis have macromelanosomes on histopathology. Histopathological differential diagnosis of macromelanosomes include Griscelli syndrome, Chediak Higashi disease, albinism, nevus spilus, neurofibromatosis, and xeroderma pigmentosum.[89] However, our patient did not have clinical features of any of the above described histopathological differentials. Our patient has an unusual clinical presentation which does not fit into any of the well described reticulate pigmentary disorders. It may be a hitherto unknown presentation of previously described disorders or it may be a unique disorder itself. Careful study of large number of patients and genomic analysis will be required to unfold this mystery. Declaration of patient consent The authors certify that they have obtained all appropriate patient consent forms. In the form the patient(s) has/have given his/her/their consent for his/her/their images and other clinical information to be reported in the journal. The patients understand that their names and initials will not be published and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed. Financial support and sponsorship Nil. Conflicts of interest There are no conflicts of interest.

Visual Diagnosis: Circumscribed Pigmentation Stippled with Punctate Macules and Papules in a 9-year-old Boy

1. Alexander K.C. Leung, MD* 2. Benjamin Barankin, MD† 1. *Department of Pediatrics, University of Calgary, Calgary, Alberta, Canada 2. †Toronto Dermatology Centre, Toronto, Ontario, Canada A 9-year-old Chinese boy presents with an asymptomatic giant hyperpigmented patch on his back that has been present since birth. The parents were told that this is a cafe-au-lait patch and that by itself it is of no medical significance. They were advised to keep an eye on the future appearance of similar lesions, 6 or more of which measuring 0.5 cm or larger may signify neurofibromatosis, a neurocutaneous disorder. Speckled, dark, superimposed spots were seen in this patch at 2 years of age. Over the subsequent years, the dark spots have gradually increased in size and number. Some of dark spots have become elevated. The child was born to a 28-year-old gravida 3 para 2 mother at 39 weeks' gestation after an uncomplicated pregnancy and a normal vaginal delivery. The parents are healthy and nonconsanguineous. There is no family history of similar lesions, dysplastic nevus, melanoma, or neurofibromatosis. His developmental milestones and past health are normal. On examination there is a sharply demarcated, well-circumscribed, light tan elliptical patch on the lower back (Fig 1). Numerous speckled, dark macules and papules as well as 2 plaques are seen in the patch. The remaining …

A Clinicopathological and Dermoscopic Correlation of Seborrheic Keratosis.

Background:Seborrheic keratosis (SK) is the most common benign epidermal tumor of the skin. Even though SK has been well characterized clinically, dermoscopically, and histopathologically, data regarding clinical dermoscopic and histopathological correlation of different types of SK are inadequate.Aim:We carried out this study to establish any correlation between the clinical, dermoscopic, and histopathological appearance of SK and its variants.Methods:This was a descriptive study. Patients with SK were evaluated with respect to age, sex, family history of similar lesions, site of lesions, and symptoms associated with the lesions. Dermoscopy was performed in all cases. Biopsies were taken from the lesions and assessed for histopathology.Results:The most common age group affected by SK was 31–50 years (42%). A female preponderance of 76% was seen. Majority of our patients had a positive family history (62%), though Sun exposure was not seen to be a major factor. The most common clinical variant was common SK (CSK) (46%). The most common dermoscopic findings seen in CSK were comedo-like (CL) openings, fissures and ridges (FR), and milia-like (ML) cysts. Dermatosis papulosa nigra and pedunculated SK had characteristic FR and CL openings on dermoscopy. Stucco keratoses showed network-like (NL) structures and sharp demarcation. CL opening on dermoscopy corresponded to papillomatosis and pigmentation, ML cysts corresponded to horn cysts, FR corresponded to papillomatosis, and NL structures corresponded to an increase in basal layer pigmentation.Conclusions:This study emphasizes the use of dermoscopy in improving the diagnostic accuracy of SK. The correlation between the various histological and dermoscopic features is described.

A Case of Facial Sarcoptes scabiei in a Female Child.

Dear Editor: Scabies in infants and young children differs from adult scabies infection and is frequently misdiagnosed1. An 8-year-old female presented with erythematous scaly pustules on her cheeks that start 3 months prior and had spread to her forehead. She was diagnosed at a local clinic with folliculitis, at which time she was treated with antibiotics and an antihistamine. The lesions were not resolved and she was brought to our hospital. Physical examination revealed scattered, 2~3 mm sized, erythematous scaly pustules over the face and an erythematous firm nodule on the left cheek (Fig. 1) with mild intermittent itching. She didn't have any skin lesions on the other site. This child had been hospitalized for 2 months due to burn injuries across the body before 6 months ago, but was found to be immunocompetent and there were no particular abnormal findings. There was no family history of similar lesions. Differential diagnoses of eosinophilic pustular folliculitis and contact dermatitis were considered. Histopathologic findings of a skin biopsy showed foreign materials considered to be scabies located in the upper portion of the epidermis with many eosinophils (Fig. 2A). To confirm the diagnosis, skin scraping of papule on her left cheek with mineral oil of the face was examined under light microscopy and scabies, eggs and scybala were found (Fig. 2B, C). We treated her with crotamiton cream, however could not follow-up her because she had return to homeland, Kazakhstan. Fig. 1 Scattered, 2~3 mm sized, erythematous scaly pustules and a firm nodule on the face. Fig. 2 (A) Foreign materials considered as scabies were located in the upper portion of the epidermis with lots of eosinophils (H&E, ×400). (B) Scabies, (C) eggs and scybala were found on the skin scraping of papule on her left cheek with mineral ... Scabies can be one of the most difficult conditions to diagnosis because of variable clinical features2. Scabies should be considered in infants or young children with generalized itch of recent onset. The classical eruption of scabies presents as pruritic papules, vesicles, pustules and linear burrows3. However, most young patients only have an admixture of primary lesions with excoriation, eczema, crusting and/or secondary infection. Excoriations, crusting and eczema can completely obscure these primary lesions, which is why scabies in infants and young children is frequently misdiagnosed4. Our patient represents an unusual case of Sarcoptes scabiei infection exclusively confined to the face. Among children's scabies infection, the frequency of infection on the face is only 8.9%5, and infection confined to only the face in immunocompetent children has not been reported until now, to the best of our knowledge. We propose some precipitating factors in this case. First, the patient had hypertrophic scars on the arms and hands due to previous burns. The hypertrophic scarring might provide a poor environment for living scabies. Second, the facial involvement of scabies is a known feature for infants, children and immunocompromised patients. The reason may be related to different cutaneous microbiomes, such as malassezia species. In cases of non-typical clinical symptoms of scabies infection in children, the elderly, and immunocompromised patients, who may suffer long periods without being treated properly as in this case, a spread of infection can occur. Dermatologists should bear in mind that scabies infection is not uncommon with recalcitrant persistent itch, and that signs such as pruritic papules and linear burrows may disappear.

Successful treatment of multiple cutaneous leiomyomas with carbon dioxide laser ablation.

Successful treatment of multiple cutaneous leiomyomas with carbon dioxide laser ablation.

Basaloid follicular hamartoma on the upper eyelid.

Basaloid follicular hamartoma on the upper eyelid.

A Case of Sporadic Dyschromatosis Universalis Hereditaria.

Dear Editor: Dyschromatosis universalis hereditaria (DUH) is a rare genodermatosis characterized by hypo- and hyper-pigmented macules with a reticulated pattern, giving an overall impression of mottling, over the trunk and limbs. It is generally an autosomal dominant disorder but recessive inheritance and patients without a family history of dyschromatosis have been reported, implying a sporadic origin1,2. The etiology of this disorder is unknown. It was recently suggested to be a disorder of melanosome synthesis rate or melanocyte activity and not a disorder of melanocyte number3. A 57-year-old man presented with generalized hypo- and hyper-pigmented macules in mottled pattern on the whole body (Fig. 1). The skin lesions developed on 100th day after his birth. He had moderate pruritus and dry skin with scaling. Potassium hydroxide preparation from the scale produced a negative result. The hair, nails, and oral mucosa as well as mental and developmental status were normal. He had no family history of similar lesions, but his son was diagnosed with X-linked ichthyosis at birth. The patient had a history of diabetes mellitus and hypertension. Systemic examination revealed no abnormalities. Routine blood test results were unremarkable. Skin biopsy specimens taken from both hypo- and hyper-pigmented lesions on his arms revealed markedly reduced and slightly increased melanin in the basal layer in hypoand hyper-pigmented lesions, respectively (Fig. 2). Therefore, we diagnosed the skin lesions as a sporadic form of dyschromatosis universalis. Fig. 1 Generalized reticulated hyper- and hypo-pigmented macules with scales on the whole body. Fig. 2 Skin biopsies were collected from hyper- and hypopigmented lesions on the upper arm (HE ×200). (A) Marked decreased basal pigmentation in a hypopigmented lesion. (B) Slightly increased melanin content in the basal layer of a hyperpigmented ... Dyschromatosis is variation of skin pigmentation, consisting of asymptomatic well-demarcated and irregular brown macules admixed with hypo-pigmented macules of varying size2. There are three major categories of dyschromatosis: DUH, dyschromatosis symmetrica hereditaria (also termed acropigmentation of Dohi), and unilateral dermatomal pigmentary dermatosis. Since its first description by Toyamo in Japan in 1929, subsequent cases of DUH have been reported in Europe, South America, and India. The phenotype seems to be heterogeneous. It is characterized by the presence of both hyper- and hypopigmented small irregular macules uniformly distributed all over the body. The trunk and extremities are the predominantly affected sites, while the face, palms, soles, and mucous membranes are less affected. The skin lesions usually develop in the first few months after birth and do not progress with age. Histopathologically, hyperpigmented lesions exhibit increased melanin content in the basal layer as well as melanin incontinence, while hypopigmented lesions exhibit relatively decreased melanin deposition in the basal layer2. On electron microscopy, hyperchromic macules contain numerous fully melanized melanosomes forming melanosome complexes, but melanosomes are absent from both keratinocytes and melanocytes in achromic macules3. The pathogenesis of DUH remains unknown. However, the DUH locus was recently mapped to chromosome 6q24.2-q25.2 and 12q21-q23, and the ABCB6 gene was identified as the pathogenic gene4. Most cases of DUH have been reported in Japan while only a few have been reported in Korea5. Furthermore, the sporadic form has rarely been reported in the Korean literature. In summary, we report a rare case of the sporadic form of dyschromatosis universalis in a middle-aged man who had no family history.

Dyschromatosis symmetrica hereditaria: Report of a sporadic case in a Nigerian child

Dyschromatosissymmetricahereditaria (DSH) is one of a group of reticulate pigment disorders of the skin. It is a rare autosomal dominantly inheritedgenodermatosis, presenting as mottled admixtures of hypopigmented and hyperpigmented macules on the dorsa of the extremities. It is predominantly found among persons of Oriental origin. We hereby document the first case of dyschromatosissymmetricahereditaria in a four year old Nigerian boy who presented with progressive symmetric dyschromic lesions on the dorsa of the hands and feet, with no family history of similar lesions. The diagnosis was confirmed by the typical histologic finding of basal hyperpigmentation with normal number of melanocytes and absence of melanin incontinence from a hyperpigmented lesionKeywords: DyschromatosisSymmetricaHereditaria, Nigerian, Sporadic

Steatocystoma multiplex - case report

Steatocystoma multiplex is a rare, benign, sporadic or familial disorder (autosomal dominant mutation in Keratin 17). Diagnosis is based on clinical grounds: multiple cysts, localized in axilla, groin, neck, scrotum and proximal extremities. We describe a case of Steatocystoma multiplex in a 28 year old male patient with a family history of similar lesions.

Unilateral Eruption of Painful Papules: A Quiz

A 36-year-old man of Pakistani origin presented with a 10-year-history of unilateral lesions involving his left arm, left torso and left leg. The lesions were painful following showers and on light touch. He was otherwise well with no significant past medical history. There was no family history of similar lesions and his parents were non-consanguineous. On examination, groups of firm reddish brown papules were seen over the left hand side of the body (Fig. 1). The lesions did not cross the midline. On histological examination of a Unilateral Eruption of Painful Papules: A Quiz

Steatocystoma multiplex masquerading as neurofibromas

A 26-year-old female patient presented with multiple, smooth, round to oval, well-defined, and skin-colored nodules, without central punctum, over both axillae since past 5 years. Few nodules were observed on chest, right upper arm, and left upper thigh. No other ectodermal abnormalities were observed in the patient. There was no family history of similar lesions. A clinical diagnosis of multiple neurofibromas was made, and largest of the lesion was excised. Histopathological examination showed features of steatocystoma multiplex. Steatocystoma multiplex is an extremely rare cystic disorder of pilosebaceous units. Although previously regarded as an inherited autosomal dominant disorder, sporadic cases have been reported.

Herpes iris of Bateman.

An 11-year-old boy presented with mildly painful erythematous rash and vesiculobullous lesions over the trunk and in the oral cavity of three days duration. One day prior, he started developing vesiculobullous lesions over his arms. Ten days prior, he had an episode of sore throat and mild fever, for which he received azithromycin. There was no history of similar lesions in the past or family history of similar lesions. On examination, ‘target’ lesions were noted over the trunk, oral cavity and genitalia [Figure 1a]. The arms were notable for a distinctive type of lesion, characterized by central bulla over an erythematous background and a ring of vesicles at the margin [Figure 1b]. Systemic examination did not reveal any abnormality. Routine blood examination revealed mild leukocytosis and elevated ESR. Based on classical target lesions and mucosal involvement, clinical diagnosis of erythema multiforme major (EMM) was made. Our case was notable for ‘Herpes iris of Bateman’ lesions over the upper extremities. The boy was treated conservatively and all lesions subsided within 2 weeks with mild hyperpigmentation.

A Clinicopathologic and Molecular Biologic Study of Patients Presenting With Few Adnexal Tumors (Two to Four) From the Morphological Spectrum of Brooke–Spiegler Syndrome

We report 11 individuals, each presenting with few (2-4) adnexal neoplasms histologically confirmed as belonging to the spectrum of lesions typical for Brooke-Spiegler syndrome (BSS) and/or multiple familial trichoepitheliomas. These include spiradenoma, cylindroma, spiradenocylindroma, and trichoblastoma variants. Our objective was to clarify whether this is merely a sporadic, albeit unusual, occurrence of multiple neoplasms in these patients or whether they are related to BSS and its phenotypic variant, multiple familial trichoepithelioma. Six patients presented with 2 neoplasms, 4 had 3 lesions and the last had 4 lesions. In none was there any family history of similar lesions. The 28 neoplasms consisted of 7 spiradenomas, 6 cylindromas, 5 spiradenocylindromas, and 11 trichoblastomas (6 trichoepitheliomas and 5 with mixed patterns). In 1 patient only with 2 spiradenomas, both tumors harbored identical CYLD sequence alterations (c.1112C>A/S371X) in the CYLD gene and both showed loss of heterozygosity on chromosome 16q. The remaining cases yielded neither germ line nor somatic alterations in CYLD. It is concluded that the presentation with few (2-4) cylindromas, spiradenomas, spiradenocylindromas, and trichoepitheliomas is a sporadic occurrence, and that these patients do not have any relationship to BSS.