Susanna K. Fistarol

Diagnosis and Treatment of Lichen Sclerosus

Lichen sclerosus (LS) is a chronic, inflammatory, mucocutaneous disorder of genital and extragenital skin. LS is a debilitating disease, causing itch, pain, dysuria and restriction of micturition, dyspareunia, and significant sexual dysfunction in women and men. Many findings obtained in recent years point more and more towards an autoimmune-induced disease in genetically predisposed patients and further away from an important impact of hormonal factors. Preceding infections may play a provocative part. The role for Borrelia is still controversial. Trauma and an occlusive moist environment may act as precipitating factors. Potent and ultrapotent topical corticosteroids still head the therapeutic armamentarium. Topical calcineurin inhibitors are discussed as alternatives in the treatment of LS in patients who have failed therapy with ultrapotent corticosteroids, or who have a contraindication for the use of corticosteroids. Topical and systemic retinoids may be useful in selected cases. Phototherapy for extragenital LS and photodynamic therapy for genital LS may be therapeutic options in rare cases refractory to the already mentioned treatment. Surgery is restricted to scarring processes leading to functional impairment. In men, circumcision is effective in the majority of cases, but recurrences are well described. Anogenital LS is associated with an increased risk for squamous cell carcinoma of the vulva or penis. This review updates the epidemiology, clinical presentation, histopathology, pathogenesis, and management of LS of the female and male genitals and extragenital LS in adults and children.

Disorders of Pigmentation

Skin color is highly individual and the variations are controlled by numerous genes. The different skin colors result from the size and number of melanosomes and do not mirror the amount of melanocytes. Disorders of pigmentation can result from migration abnormalities of melanocytes from the neural crest to the skin during embryogenesis. In addition, impairment of melanosome transfer to the surrounding keratinocytes, an alteration in melanin synthesis and a defective degradation or removal of melanin may lead to abnormal skin pigmentation. Immunologic or toxic mediated destructions of melanocytes can end in pigmentation disorders. Disorders of pigmentation are classified in hypo‐ or hyperpigmentation which can occur as a genetic or acquired disease. They can manifest locally or diffuse. Congenital hypopigmentation can be restricted to the skin as in piebaldism or they represent a systemic disease as in Menkes disease or phenylketonuria. Localized hypo‐ or hyperpigmentation in children may serve as markers for systemic diseases. Ash‐leaf hypopigmentation are characteristic for tuberous sclerosis and more than 5 café‐au‐lait spots suggest neurofibromatosis 1 (von Recklinghausen disease). The most common autoimmune‐induced depigmentation is vitiligo. Generalized hyperpigmentation only rarely reflects a primary genetic disorder but is most often from acquired diseases as in Addison disease, secondary hemochromatosis or primary biliary cirrhosis. Treatment of pigmentation disorders are based on a diagnosis which sometimes allow a specific intervention. Cosmetically acceptable results are difficult to obtain.

Hair Shaft Abnormalities – Clues to Diagnosis and Treatment

Hair dysplasias are congenital or acquired alterations which often involve the hair shaft. Hair shaft abnormalities are characterized by changes in color, density, length and structure. Hair shaft alterations often result from structural changes within the hair fibers and cuticles which may lead to brittle and uncombable hair. The hair of patients with hair shaft diseases feels dry and looks lusterless. Hair shaft diseases may occur as localized or generalized disorders. Genetic predisposition or exogenous factors produce and maintain hair shaft abnormalities. Hair shaft diseases are separated into those with and those without increased hair fragility. In general, optic microscopy and polarized light microscopy of hair shafts provide important clues to the diagnosis of isolated hair shaft abnormalities or complex syndromes. To establish an exact diagnosis of dysplastic hair shafts, a structured history and physical examination of the whole patient are needed which emphasizes other skin appendages such as the nails, sweat and sebaceous glands. Profound knowledge on hair biology and embryology is necessary to understand the different symptom complexes. Therapy of hair shaft disorders should focus on the cause. In addition, minimizing traumatic influences to hair shafts, such as drying hair with an electric dryer or permanent waves and dyes, is important. A short hairstyle is more suitable for patients with hair shaft disorders.

Plaque-type blue nevus of the oral cavity.

Background: The blue nevus of the oral cavity is a rare lesion with important differential diagnoses. The plaque-type blue nevus is an uncommon variant of the blue nevus. Because of its particular clinical appearance, it can easily be confused with satellite metastases from malignant melanoma. The diagnosis usually requires a biopsy. Objectives: To describe the clinical and histological features of a plaque-type blue nevus of the buccal mucosa in a 20-year-old white woman, to review all intraoral blue nevi and all plaque-type blue nevi reported in the literature so far and to compare the criteria of blue nevi and nevus of Ota. Results: An intraoral blue nevus was described for the first time in 1959. Since then around 70 further cases have been documented. Our case is the first report of a plaque-type blue nevus of the oral cavity. Conclusions: The exceptional widespread intraoral blue nevus described herein can clinically be confused with an intraoral malignant melanoma, and it has a very similar clinical appearance as the intraoral part of nevus of Ota. Apart from the clinical resemblance, there is also some degree of histological overlap of the dermal melanocytoses. Transitional states between blue nevus and nevus of Ota may occur clinically and histologically.

Missing Creases of Distal Finger Joints as a Diagnostic Clue of Nail-Patella Syndrome

Nail-patella syndrome (NPS, OMIM 161200) is an autosomal dominant disorder with a clinical characteristic tetrad consisting of fingernail dysplasia, hypoplastic or absent patellae, bony protuberances of the ilia (iliac horns) and dislocation of the radial head. Kidney involvement may lead to renal failure, and there is an increased risk for glaucoma. Clinical diagnostic skin clues are triangular lunulae especially on the thumbs which are highly predictive for the NPS. A less known but even more important sign is the absence of skin creases on the dorsal aspects of the distal interphalangeal joints. Even in patients with normal nails the absence of distal interphalangeal creases was noted. Less specific skin changes are webbing between digits, within the popliteal fossae, hyperextensible joints, absent or fragile nails and grooved nails and longitudinal ridging with splitting. With increasing costs in the health care system, it is important to recognize diseases by specific clinical findings which are often as predictive and precise as expensive technical investigations.

Acquired Perforating Dermatosis in a Patient with Poland Syndrome

Acquired perforating dermatosis (APD) is characterized by umbilicated 1- to 10-mm-measuring papulonodules with a central adherent oystershell-like keratotic plug, typically on the dorsa of the hands, forearms and over the knees. APD is associated with systemic diseases, especially diabetes mellitus and/or renal failure. Histologically the lesions show transepidermal elimination of altered dermal components into a cup-shaped epidermal depression. We present a 69-year-old man with coexisting APD and Poland syndrome (PS), an association not yet described. PS (OMIM 173800) is a rare congenital anomaly consisting of unilateral partial or total absence of the greater pectoralis muscle and ipsilateral symbrachydactyly. Most cases of PS are sporadic as it was in our case. Our patient had, in addition, an untreated diabetic condition, hyperuricaemia, dilated cardiomyopathy and a very recent pulmonary embolism. He responded to therapy with allopurinol.

V-Shaped, Longitudinal Nail Dystrophies in Trichorhinophalangeal Syndrome Type I

Trichorhinophalangeal syndrome (TRPS) is a rare genodermatosis with growth retardation, craniofacial abnormalities, alopecia and brachyphalangia. Three subtypes with considerable clinical overlap can be separated. Numerous nail changes have been documented in this syndrome. We observed a 19-year-old female with typical TRPS I who developed unique V-shaped longitudinal nail dystrophies on both hands. TRPS belongs to the spectrum of ectodermal dysplasias, and therefore it is not surprising that cutaneous adnexal structures are involved in different ways.

Unifocal Langerhans cell histiocytosis of the oral mucosa

A 24‐year‐old man was admitted for a painful gingival ulcer. Histology and immunohistochemistry of a lesional biopsy revealed the diagnosis of Langerhans cell histiocytosis (LCH). To rule out multifocal disease, a complete staging was performed. There was no evidence of bony lesions or any other organ involvement. The diagnosis of LCH restricted to the oral mucosa was established. The complete oral lesion was ablated by CO2 laser and subsequently treated topically with triamcinolone acetonide. The patient is still in remission after one year of follow‐up.

HIV Dermatology in Switzerland – From the Beginning to the Present

The panendemic of HIV has markedly influenced the dermatology of our generation. This new infection produced atypical manifestations of known dermatological diseases. And beyond that, mucocutaneous diseases emerged, which had not yet been described. Classical epidemiological studies concluded that clustering of AIDS cases could be explained only if AIDS was an infection transmitted by sexual activity or blood. Switzerland was hit early on by the HIV epidemic, and Theo Rufli, the leading expert on sexually transmitted diseases in our country, was involved from the beginning. He contributed with his team to a better delineation of the cutaneous manifestations of HIV infection by directing one of the largest prospective studies on the natural course of cutaneous manifestations of HIV. In addition, he participated in studies which documented new skin diseases in HIV-infected patients. From the very beginning of the epidemic in Switzerland, Theo Rufli founded an organization which helped patients cope with their diagnosis. In Basel, an anonymous consultation facility was established. Theo Rufli also strongly supported the ‘Stop AIDS’ campaign. This review looks back on the history of HIV in Switzerland and especially in Basel.

A Special Issue of Dermatology Dedicated to Theo Rufli

Accessible online at: www.karger.com/drm It is hard to believe that Theo Rufli will turn 65 on February 15, 2005, and therefore will step back and retire at the end of the winter term. Beginning over 35 years ago, he had been first coworker and then – for 19 years – director of the Department of Dermatology at the University Hospital of Basel. After 2 years of internal medicine, he received his training as a dermatology resident from 1969 to 1973 as a scholar of Prof. Rudolf Schuppli. He spent some time abroad in dermatology departments at Warsaw and in several institutions in London. After returning, he became ‘Oberarzt’ in 1973 and received the ‘venia docendi’ in 1977. He then served many years as vice-chairman until he was elected Ordinary Professor for Dermatology and Venereology in 1985. This was in a long-standing tradition as his precedessors Wilhelm Lutz (1922–1956) and Rudolf Schuppli (1956–1985) had also been first members of the clinic staff and had then both been elected as ordinary professor and director. All three chairmen were excellent clinicians, histopathologists and allrounders just as it is required in a clinic with few permanent staff members. His first and central interest has always been the patient, his disease but also the care for the person behind, because he had a deep compassionate understanding for the suffering patient. As a director of the clinic, he always had an open heart and office door for the problems of every coworker. Perhaps more than anyone else, Theo Rufli directly supervised the training of residents and always guarded the quality of graduate students and the respect that dermatology gained from other physicians. He is an outstanding teacher; countless medical students have followed his famous lectures spiced with humor and anecdotes. Because of his obvious love for his own specialty and his ability to communicate this commitment to his students, many of them entered the field of dermatology, and residents held him in high regard. He taught clinical dermatology as an essential part of modern medicine and always reminded students and residents of the value of looking, examining and talking to patients. Although