Pilomatrical Tumor of Low Malignant Potential: A Tumor Between Pilomatricoma and Pilomatrical Carcinoma.

ABSTRACT: We report a case of pilomatrical tumor showing intermediate histological features between pilomatricoma and pilomatrical carcinoma. The lesion recurred twice with the same histological features. Similar cases were was probably called aggressive or proliferating pilomatixoma; we think that the term pilomatrical tumor of low malignant potential is more suitable for this lesions. Excision with wide free margins and follow-up are recommended.

A proposed classification for follicular involvement by melanoma.

BACKGROUND: Folliculotropism in melanoma is poorly characterized and standard categorization for follicular involvement by melanoma is unavailable. We propose a logical categorization system. METHODS: We conducted a search of our archives over a 24-year period for cases mentioning the terms follicle, follicular, folliculotropic, folliculocentric and melanoma. RESULTS: We identified 90 cases of melanoma with involvement of the hair follicle. Distinct patterns were identified. The invasive patterns were primary follicular, folliculotropic and invasive arising from melanoma in situ (MIS) with extensive follicular involvement. Follicular involvement by MIS was either lentiginous, nested or a combination of both. A total of 29 invasive melanomas were identified. Of these 12 had invasive melanoma around the hair follicle, 2 were primary follicular melanomas, 7 showed folliculotropism and 3 were invasive melanomas arising from MIS around the follicle. Seventeen invasive melanomas had follicles only involved by MIS (9 nested, 6 nested and lentiginous and 2 lentiginous). A total of 61 cases of MIS with follicular involvement were identified; of these 33 were lentiginous, 10 nested and 18 both lentiginous and nested. CONCLUSION: We propose that the three distinct patterns of follicular involvement by invasive melanoma and the three distinct patterns of MIS will be valuable for logically categorizing involvement of the hair follicle by melanoma.

Panfolliculoma and histopathologic variants: a study of 19 cases.

Panfolliculoma (PF) is an uncommon benign follicular neoplasm exhibiting differentiation toward all components of a hair follicle. Several pathologic manifestations have been described in a limited number of cases. We studied 19 cases of PF to summarize the clinical parameters and to classify this unique neoplasm histopathologically. A study of the largest sample series of PF has been performed here. The lesions affect both genders after age 20. The head is the most common site of PF of all types. On microscopic examination, all cases demonstrated advanced follicular differentiation by showing cell components of infundibulum, isthmus, stem, bulb, and mesenchymal papilla. Based on the findings and various patterns in histopathology, we classified PF into 3 subtypes: nodular, superficial, and cystic. The superficial and cystic variants account for most of the cases in our study. The histopathologic differential diagnosis is also discussed for each subtype.

Telogen effluvium revisited.

Telogen effluvium (TE) is heterogeneous disorder. It can be classified into three main categories: the premature teloptosis, the collective teloptosis and the premature entry into telogen. The last category can be divided in three types: the drug induced TE, TE due to dietary deficiencies and the "autoimmune" TE. Despite this heterogeneity, the large majority of TE that arrive at the dermatologist's observation pertain to the autoimmune type, featuring a standard presentation. The typical patient is a woman claiming to have always had a "full head of hair" and reporting her hair to come out suddenly "by the handful". Usually, she is accurate about the date of onset of her shedding. She is in good health, without signs of anorexia nor nutrient deficiencies. She admits to having been in an anxious state for some months, and felt, occasionally or not, a painful or burning sensation at the scalp (trichodynia). Usually, the course of the disorder is chronic but intermittent, with apparent remissions being irregularly intermitted by relapses. The shed hairs do not exhibit telogen roots, but mostly exogen ones. This distinct entity, shares some analogies with alopecia areata, including the triggering role of emotional stress, trichodynia and the frequent association with Hashimoto's thyroiditis. Methods to assess its severity and to monitor treatment are described. In the absence of a documented etiopathogenesis, no treatment can be endorsed, but a course of topical corticosteroids could be tried.

Clinical effects of non-ablative and ablative fractional lasers on various hair disorders: a case series of 17 patients.

BACKGROUND AND OBJECTIVES: Both ablative and non-ablative fractional lasers have been applied to various uncommon hair disorders. The purpose of this study was to demonstrate the clinical effects of fractional laser therapy on the course of primary follicular and perifollicular pathologies and subsequent hair regrowth. MATERIALS AND METHODS: A retrospective review of 17 patients with uncommon hair disorders - including ophiasis, autosomal recessive woolly hair/hypotrichosis, various secondary cicatricial alopecias, pubic hypotrichosis, frontal fibrosing alopecia, and perifolliculitis abscedens et suffodiens - was conducted. All patients had been treated with non-ablative and/or ablative fractional laser therapies. RESULTS: The mean clinical improvement score in these 17 patients was 2.2, while the mean patient satisfaction score was 2.5. Of the 17 subjects, 12 (70.6%) demonstrated a clinical response to non-ablative and/or ablative fractional laser treatments, including individuals with ophiasis, autosomal recessive woolly hair/hypotrichosis, secondary cicatricial alopecia (scleroderma and pressure-induced alopecia), frontal fibrosing alopecia, and perifolliculitis abscedens et suffodiens. Conversely, patients with long-standing ophiasis, surgical scar-induced secondary cicatricial alopecia, and pubic hypotrichosis did not respond to fractional laser therapy. CONCLUSION: Our findings demonstrate that the use of non-ablative and/or ablative fractional lasers promoted hair growth in certain cases of uncommon hair disorders without any remarkable side effects.

Trichothiodystrophy: Photosensitive, TTD-P, TTD, Tay syndrome.

Although the term, "trichothiodystrophy" (TTD) refers to the hair anomalies in this group of patients, this is a heterogeneous, multisystem disease in which any or every organ in the body may be affected. Neuroectodermal derived tissues are particularly likely to be involved. This term was introduced by Price et alin 1980 to designate patients with sulfur-deficient brittle hair, which they recognized as a marker for this complex disease and designated it as a "neuroectodermal symptom complex". Patients with TTD have brittle hair and nails (associated with reduced content ofcysteine-rich matrix proteins), ichthyotic skin and physical and mental growth retardation. Ichthyosis is usually apparent at birth but much less so after the first few weeks of life. Other frequently associated features include ocular cataracts, infections and maternal complications related to pregnancy. Atrophy of subcutaneous fat may also be present. TTD occurs in a pattern of inheritance consistent with an autosomal recessive condition. The disease is extremely heterogeneous in severity and extent, with some patients showing no neurological deficiency. Others show severe, multisystem disease. Many patients die at a young age, most commonly due to infectious disease. TTD is part of a more broadly defined group of diseases identified as IBIDS (ichthyosis, brittle hair, impaired intelligence, decreased fertility and short stature). Photosensitive cases are also identified as PIBIDS (photosensitivity with IBIDS). Cases without manifest ichthyosis are also identified as PBIDS. These syndromes defy rigorous definition because of clinical variation between patients. The original two cases were described by Tay in oriental siblings, whose parents were first cousins; thus the disease is also known as Tay syndrome. The hairs in patients with TTD have a distinctive, diagnostically useful appearance on polarized light microscopy consisting of alternating light and dark bands known as the "tiger tail" anomaly. Diagnosis may be confirmed by sulfur content analysis ofhair shafts, which shows decreased sulfur and cysteine content. Approximately half of patients with TTD have photosensitivity, which correlates with a nudeotide excision repair (NER) defect. These patients are designated as having trichothiodystrophy-photosensitive (TTDP). Non-photosensitivepatients are designated as having trichothiodystrophy-nonphotosensitive (TTDN). Skin cancer is very rare in sun-sensitive TTD.

The genetics of hair shaft disorders.

Many of the genes causing hair shaft defects have recently been elucidated. This continuing medical education article discusses the major types of hair shaft defects and associated syndromes and includes a review of histologic features, diagnostic modalities, and findings in the field of genetics, biochemistry, and molecular biology. Although genetic hair shaft abnormalities are uncommon in general dermatology practice, new information about genetic causes has allowed for a better understanding of the underlying pathophysiologies.

Epidermal Nevi and Related Syndromes - Part 2: Nevi Derived from Adnexal Structures. / Nevus epidérmicos y síndromes relacionados. Parte 2: Nevus derivados de estructuras anexiales.

Epidermal nevi are hamartomatous lesions derived from the epidermis and/or adnexal structures of the skin; they have traditionally been classified according to their morphology. New variants have been described in recent years and advances in genetics have contributed to better characterization of these lesions and an improved understanding of their relationship with certain extracutaneous manifestations. In the second part of this review article, we will look at nevi derived from the adnexal structures of the skin and associated syndromes.

Lash ptosis in congenital and acquired blepharoptosis.

OBJECTIVE: To determine the prevalence of lash ptosis (LP) in eyes with congenital and acquired blepharoptosis. METHODS: We retrospectively graded photographs of 228 eyes from 174 patients with congenital or acquired blepharoptosis for LP. We used a 4-point rating scale for LP, in which 0 indicates no LP; 1, minimal; 2, moderate; and 3, severe. A prospective evaluation of LP in 30 eyes from 15 patients without blepharoptosis (control eyes) was also performed. RESULTS: A total of 107 eyes (in 87 patients) demonstrated congenital blepharoptosis and 121 eyes (in 87 patients) had acquired blepharoptosis. A moderate to severe rating of LP (rating, >/= 2) occurred in 60.7% of eyes with congenital blepharoptosis, 28.9% of eyes with acquired blepharoptosis, and 6.7% of control eyes. Lash ptosis (rating, >/= 1) was present in 91.6% of eyes with congenital blepharoptosis, 83.5% of eyes with acquired blepharoptosis, and 33.3% of control eyes. The mean LP rating was 2.1 for eyes with congenital blepharoptosis, 1.3 for eyes with acquired blepharoptosis, and 0.6 for control eyes. CONCLUSIONS: Lash ptosis was common in the patients with blepharoptosis. Moderate to severe LP occurred more commonly in all forms of blepharoptosis compared with normal eyes, with more frequent and more severe LP demonstrated in eyes with congenital blepharoptosis.

Pigmentary disorders in the South East.

In this article, new information is introduced regarding vitiligo and melasma based on clinical studies of Korean patients and specific pigmentary disorders that occur in Asians. These disorders can be psychologically distressing because of their visible nature. They are especially resistant to various kinds of conventional treatments and tend to have a chronic progression that makes patients doubt the results and the prognosis.

Benign follicular tumors.

Benign follicular tumors comprise a large and heterogeneous group of neoplasms that share a common histogenesis and display morphological features resembling one or several portions of the normal hair follicle, or recapitulate part of its embryological development. Most cases present it as clinically nondescript single lesions and essentially of dermatological relevance. Occasionally, however, these lesions be multiple and represent a cutaneous marker of complex syndromes associated with an increased risk of visceral neoplasms. In this article, the authors present the microscopic structure of the normal hair follicle as a basis to understand the type and level of differentiation of the various follicular tumors. The main clinicopathological features and differential diagnosis of benign follicular tumors are then discussed, including dilated pore of Winer, pilar sheath acanthoma, trichoadenoma, trichilemmoma, infundibuloma, proliferating trichilemmal cyst/tumor, trichoblastoma and its variants, pilomatricoma, trichodiscoma/fibrofolliculoma, neurofollicular hamartoma and trichofolliculoma. In addition, the main syndromes presenting with multiple follicular tumors are also discussed, namely Cowden, Birt-Hogg-Dubé, Rombo and Bazex-Dupré-Christol syndromes, as well as multiple tumors of follicular infundibulum (infundibulomatosis) and multiple trichoepitheliomas. Although the diagnosis of follicular tumors relies on histological examination, we highlight the importance of their knowledge for the clinician, especially when in presence of patients with multiple lesions that may be the cutaneous marker of a cancer-prone syndrome. The dermatologist is therefore in a privileged position to recognize these lesions, which is extremely important to provide further propedeutic, appropriate referral and genetic counseling for these patients.

Hair casts. Review and suggestion regarding nomenclature.

There are two types of hair cast. The common type is found frequently in association with parakeratotic scalp disorders. They have features allowing specific identification. They occur in children and adults of either sex. It is suggested they be called parakeratotic hair casts, as this name reflects the cause and composition of the casts. The uncommon type has specific features that are different from the common type. They are not usually associated with diseases of the scalp and have only been reported in female subjects. It is suggested they be called peripilar keratin casts, as this is the name frequently used for them. The proposed nomenclature should avoid confusion between two distinct types of hair casts that have often inappropriately been regarded as the same disorder, and which have not been previously differentiated by specific names.

Modified grading system for upper eyelid trachomatous trichiasis.

AIM: This study was conducted to determine the level of inter-observer agreement in the modified grading scheme for trichiasis of the upper eyelid. METHODS: A grading system that covers the entire spectrum of trachomatous trichiasis, extending from the simple to the severe forms, was initially developed by the first and second authors and field-tested. The grading scheme recognizes three levels of severity, based on deviation of the lid margin (TT1, TT2 and TT3); and four anatomical locations indicating where the eyelashes touch the globe in TT1 (nasal, central, temporal, or combined). The grading of trichiasis patients was then conducted on the basis of the modified grading scheme. RESULTS: The inter-observer agreement between the grades of simple trichiasis (TT1) and entropion (TT2) using Cronbach's alpha was 0.84, and the agreement within each sub-grade was 0.86. The weighted Kappa value was 0.68 (95% CI 0.57-0.79) for the main grades and 0.49 (95% CI 0.23-0.79) for the sub-grades. CONCLUSIONS: The inter-observer agreement was very reliable and could easily be attained by all levels of ophthalmic professionals. As the grading follows the natural progression of trichiasis from the simple to the severe forms in relation to the anatomical site involved, it helps to determine the degree of correction and how far to extend the surgical incision.

Complementation studies in cells from patients affected by trichothiodystrophy with normal or enhanced UV photosensitivity.

A normal level of UV-induced DNA-repair synthesis (UDS) was observed in fibroblasts from a patient affected by trichothiodystrophy (TTD) without photosensitivity. This finding indicates that the hypersensitivity to UV light and the reduced UDS due to the presence of xeroderma pigmentosum complementation group D mutation (XP-D), described in photosensitive TTD patients, are not constantly associated with TTD. Complementation analysis in heterokaryons, obtained by fusion of repair-proficient with repair-deficient TTD cells, demonstrates that cells from the patient showing normal photosensitivity are able to restore UDS in UV-hypersensitive TTD cells.

Hair keratinization in health and disease.

The cells of the epidermis and its derivative, the hair follicle, undergo processes of terminal differentiation that involves the synthesis and assembly of classes of protein and enzymes to form the stratum corneum of the epidermis, and the hair fiber and its cuticle. Using genetic linkage and DNA sequencing methods, we now know that mutations in several genes encoding epidermal keratins or a transglutaminase enzyme cause ichthyosis-related diseases. Similar methods have now suggested that mutations in hair keratin genes underlie some cases of monilethrix, and a deficiency in a cuticle lipid metabolizing enzyme causes maple syrup urine disease. It is to be expected that further application of these methods will elucidate the molecular bases of other genetic hair diseases.

The different faces of pili bifurcati. A review.

Pili bifurcati is an uncommon hair shaft dysplasia characterized by bifurcation of the hair shaft. The two characteristics that define the dysplasia are: 1. Each bifurcation produces two separate parallel branches which fuse again to form a single shaft. 2. Each branch of the successive bifurcations is covered with its own cuticle. Currently, there is confusion between the terms "pili bifurcati" and "pili gemini". The name "pili gemini" is used to define a kinetic papilla that splits at the upper end from single to double-tipped during the anagen phase and consequently the same follicular matrix produces two different-sized hair shafts having separate cuticles that emerge through a single pilary canal. Pili gemini maintains the double tipped papilla and consequently the hair shaft does not fuse again. Papillar tips that divide into several tips will produce several hair shafts, that characteristically do not fuse again. When the same papilla changes its shape repeatedly during the anagen phase, it can produce hair shafts with bifurcations at irregular intervals: pili multibifurcati. And, as it is also possible for one of the new papillae to split again in two, the hair shaft may be doubly bifurcated: pili bi, bifurcati. Pili bifurcati should be distinguished from acquired splitting of hair shafts that do not represent true bifurcations because the two split parts are never surrounded by a complete cuticle. Such acquired splitting may be called "central trichoptilosis".

[Coat color in dogs. 2: Clinical significance]. / Die Fellfarbe beim Hund. Teil 2: Klinische Bedeutung.

The meaning of the coat colour of the dog reaches further than only to the field of breeding for beauty. Besides aspects of destination (hunting dogs, herding dogs) the clinical meaning is of particular interest. Some colours can show certain defects. Diseases of allowed colours are the colour dilution alopecia (CDA) in diluted (mostly "blue") pigmentation with its subtype of Black hair follicular dysplasia (BHFD) in black pigmentation and congenital deafness in extreme piebalds. Not allowed coat colours, which are connected with defects, are the extreme dapple of the Merle-syndrome and the "grey" Collie with cyclic hematopoesis.