Multiple pilomatricomas in twins with Rubinstein-Taybi syndrome

Pilomatricomas are benign tumors originating from the capillary matrix, which may present as solitary lesions or, less commonly, multiple. Myotonic dystrophy and familial adenomatous polyposis are the most frequently associated disorders with multiple pilomatricomas. There are few reports relating these tumors to other genetic syndromes. Rubinstein-Taybi syndrome is a rare autosomal dominant disorder characterized by intellectual disability and typical dysmorphic characteristics. There are five case reports relating to multiple pilomatricoma to Rubinstein-Taybi syndrome, an association that needs to be clarified. For this reason, we report the first case of multiple pilomatricoma in monozygotic twins with typical Rubinstein-Taybi syndrome.     

Chondrodermatitis nodularis chronica helicis in monozygotic twins

Chondrodermatitis nodularis chronica helicis (CNCH) is a benign inflammatory nodule of the helix. Patients report severe tenderness upon pressure. Commonly seen in middle-aged men, there are no reports of this disease in twins. We report middle-aged male monozygotic twins who simultaneously developed CNCH. This suggests, but does not prove, the possibility of a hereditary factor in the pathogenesis of CNCH.     

Simultaneous occurrence of folliculitis decalvans capillitii in identical twins

Folliculitis decalvans is a chronic purulent folliculitis resulting in permanent hair loss and follicular atrophy. We report 32-year-old identical female twins presenting with relapsing pruritic outbreaks on the scalp resulting in areas of permanent baldness. Staphylococcus aureus was detected in the lesions of both women. Histopathology confirmed the diagnosis of folliculitis decalvans. Immunological testing showed no alteration of the immune system. To our knowledge, this is the first report on folliculitis decalvans occurring in identical twins, suggesting a possible genetic component in this disease.     

Solitary congenital self-healing reticulohistiocytosis in monozygotic twins

We report monozygotic twins with congenital self-healing reticulohistiocytosis, whose lesions initially presented as hemorrhagic bullae at birth with rapid progression into crusted papules the following day. Physical examination disclosed crusted papules on the right side of the neck of twin 1 and a similar solitary lesion on the lateral side of the right thumb of twin 2. Excisional biopsy specimen findings of the neck and thumb lesions were consistent with Langerhans cell histiocytosis, which was further confirmed by positive CD1a staining. The lesions resolved completely by 2 months with no evidence of recurrence or systemic involvement. Congenital self-healing reticulohistiocytosis is a rare, self-limited form of Langerhans cell histiocytosis. Although familial clustering in Langerhans cell histiocytosis was previously reported, to the best of our knowledge there is no report suggesting familial clustering in congenital self-healing reticulohistiocytosis. Our patients are interesting in terms of raising the question of whether the presence of congenital self-healing reticulohistiocytosis in monozygotic twins is implicative of a genetic role in its pathogenesis.     

Discordant expression of tuberous sclerosis in monozygotic twins

A set of 20-year-old female Japanese twins, most probably monozygotic, had clinical evidence of tuberous sclerosis (TS). They were discordant for symptoms. One of the twins exhibited facial red-brown papules (adenoma sebaceum), a dorsal shagreen patch, intracerebral calcifications, angiomyolipoma in the right kidney, and hypopigmented macules; the other had only a few hypopigmented macules. Modification of TS gene expression by the effects of environmental (extrinsic) factors is suggested.     

Xeroderma pigmentosum and lentigo maligna in identical twins

Xeroderma pigmentosum (XP) is a rare autosomal recessive genodermatosis. Skin abnormalities result from an inability to repair UV-damaged DNA. Clinically, XP presents with early onset cutaneous changes (severe photosensitivity, actinic keratoses, and telangiectasias) and an increase of developing cutaneous malignancies beginning in early childhood, but lentigo maligna and melanomas are relatively rare. Here we report on homozygote twins in whom there was no positive family history. They showed subnormal physical growth. On ophthalmological examination, both had photophobia and decreased visual acuity. Since birth, several excisions had been performed for skin neoplasms. In one of them a pigmented patch developed over the frontal area which proved to be lentigo maligna and she was referred to a dermato-oncology center. They have been given isotretinoin and physical sunscreen since then. The follow-up period was extended to 2 years and no serious complications occurred from the above treatment. This is an interesting report about XP in twins with the presentation of the rare neoplasm lentigo maligna.     

Monozygotic twins with atrophia maculosa varioliformis cutis

Atrophia maculosa varioliformis cutis (AMVC) is a sporadic or inherited childhood disorder, signified by the occurrence of pitted scars, usually over the face. We report two cases of AMVC occurring in monozygotic twins.     

Identical twins with primary cutaneous melanoma presenting at the same time and location

Thus far there have been very few cases that document such a rarity as the same cancer occurring in monozygotic twins, at the same time, in the same location. We report this extraordinary phenomenon in our patients, 71-year-old identical female twins, presenting with melanoma at the same time (within 10 days of each other) and location (the right calf).     

Congenital malalignment of the great toenails in dizygotic twins

Congenital malalignment of the great toenails is a nail disorder caused by the malalignment of the nail matrix, which results in lateral growth of the nail plate. It may cause onychogryphosis and, in infants and children, ingrown nails. We report an occurrence of this deformity in dizygotic twins.     

Epidermolysis bullosa acquisita in identical twins

Identical twin sisters developed generalized erythema and bullae on skin and mucous membranes at 18 and 19 years of age. Atrophic scars and milia were formed later. Indirect immunofluorescence (IF) study of the separated skin by incubation in 1.0M NaCl showed antibasement membrane zone (BMZ) antibodies bound to the dermal side. The HLA-DR typing demonstrated DR2/DW11. Pulse therapy resulted in marked clinical improvement. This is the first report of epidermolysis bullosa acquisita (EBA) in identical twins and suggests the possibility that the disease may have a genetic component.     

Lichen planus in monozygotic twins

A pair of identical twins presented with lichen planus involving skin and nails.     

Reticular erythematous mucinosis – (REM syndrome) in twins

We present female twins with reticular erythematous mucinosis (REM syndrome). Remarkably, the lesions developed in both sisters almost at the same time in the same locations after UV exposure. Reports of familial manifestations of REM syndrome are very rare and an association to a distinct HLA constellation has not been proven. Our report clearly suggests a genetic predisposition.     

Urticaria pigmentosa in two pairs of monozygotic twins.

Urticaria pigmentosa occurred in both members of two pairs of twins. Identical blood typings, HLA histocompatibility and appearance strongly indicate that each pair of twins is monozygotic. Except for cutaneous lesions, there were no clinical or roentgenologic evidences of systemic mastocytosis. But latent diabetes mellitus was found in one member. Literature reporting monozygotic twins with urticaria pigmentosa will be discussed in this paper.     

Cutaneous neonatal lupus erythematosus: discordant expression in identical twins

BACKGROUND: Neonatal lupus erythematosus is a rare syndrome characterized essentially by cutaneous lesions and/or congenital heart block occurring in infants at birth, or shortly after. It is related to transplacental crossing of maternal auto antibodies (usually anti Ro/SS-A, La/SS-B or rarely anti-U(1) RNP) from the mother to the infant. Mothers of affected children have signs of systemic lupus erythematosus or other collagenosis or are asymptomatic. CASE REPORT: We report a case of neonatal lupus erythematosus in one identical twin, revealed at the age of 3 months by erythematous and annular cutaneous lesions of the face and limbs. These lesions were preceded at birth by an asymmetrical livedo pattern of the lower limbs. Her twin sister was unaffected but both infants had a high rate of anti-Ro/SSA antibodies. The diagnosis of neonatal lupus erythematosus permitted to reveal a biological lupus syndrome in their asymptomatic mother. Cutaneous lesions cleared almost completely within 1 year whereas antiRo/SSA antibodies disappeared. CONCLUSION: Cases of neonatal lupus erythematosus in twins are rare and mostly described in heterozygotic twins. Clinical discordance is usual and could partly be explained by genetic factors. In monozygotic twins, like in our case, chromosome X inactivation could be an explanation of the differences observed.     

Neonatal haemangiomatosis in identical twins with twin-twin transfusion syndrome

INTRODUCTION: Benign natal haemangiomatosis is characterised by the presence of multiple congenital haemangiomas restricted to the skin. It is differentiated from diffuse neonatal haemangiomatosis in which there is both cutaneous and visceral involvement, with higher morbidity and mortality. PATIENTS AND METHODS: Two identical twins, I and II (monochorionic placenta, biamniotic), born prematurely at 30 weeks' amenorrhoea, presented twin-transfusion syndrome resulting in retarded intrauterine growth in twin I, the donor, and incipient anasarca in twin II, the recipient. Twin I weighed 960 g while twin II weighed 1 200 g. At birth, miliary haemangiomatosis was observed in both infants (16 haemangiomas in I, 19 in II). Abdominal ultrasound and whole-body MRI performed in the two children revealed multiple angiomatous hepatic nodular lesions in I. Subsequent routine clinical and ultrasound monitoring (hepatic and cardiac) showed increased size of the haemangiomatous lesions over the first 4 months followed by stabilisation and gradual regression. No systemic therapy was required. In twin I an episode of ulceration of a neck haemangioma occurred at 5 months and a favourable outcome was obtained on administration of topical hydrocolloid therapy. DISCUSSION: Twin-transfusion syndrome affects 15 to 30% of monochorionic biamniotic pregnancies. It is a serious complication of twin pregnancies resulting from a dynamic process of interfoetal blood transfusion as a result of venous-venous or arteriovenous vascular anastomoses. In the present case, which appears to be the first reported case, it seems that these monochorionic twins, who shared the same placenta, presented haemangiomatosis simultaneously in utero, if we accept the hypothesis of grafting of emboli of placental microvessels in the formation of congenital haemangiomas.     

Dutasteride improves male pattern hair loss in a randomized study in identical twins

Objectives This study compared the efficacy of dutasteride vs. placebo in the treatment of male pattern hair loss (androgenetic alopecia) in 17 pairs of identical twin males with androgenetic alopecia over a 1‐year period. Methods In this randomized, double‐blind, placebo‐controlled, single‐center study, one twin from each identical twin pair received dutasteride 0.5 mg/day for 12 months while the other received placebo for 12 months. Hair growth was evaluated using standardized clinical photographs, hair counts, and patient self‐assessment questionnaires. Result Dutasteride significantly improved hair growth at 1‐year compared to placebo based on the analysis of the investigator assessment and the patient self‐assessment questionnaires. Sixteen of 17 sets of twins completed the study, of which 15 sets correctly predicted the use of dutasteride. Only one set could not determine the active drug from the placebo. Conclusion Through the use of identical twins, this randomized trial provides evidence that dutasteride significantly reduces hair loss progression in men with male pattern hair loss.     

Psoriasis in an unselected series of twins

The relative importance of genetic factors in the origin, age at onset, clinical type, course, and severity of psoriasis was evaluated on the basis of an unbiased sample of twins, ie, the Danish Twin Register, which covers the total population of twins born in Denmark. All verified and probable cases of psoriasis in twins, born 1891 through 1920, were ascertained. Results are presented of an examination of all members of index pairs in which both partners were alive on a certain date. Fourteen monozygotic and 22 dizygotic, like-sexed pairs were found to include at least one partner with unquestionable psoriasis. Zygosity determination was mainly based on extensive serological examinations. The analyses show that the manifestation of psoriasis depends almost exclusively on the presence of the specific genotype. The age at onset, clinical type, course, and severity are also mainly determined by the genetic constitution. Association with certain HLA antigens of the B series has been confirmed, but the fact that many of the twins (including several of the concordant monozygotic pairs) possess neither of these antigens shows the corresponding genes to be important, but not decisive, elements in the predisposition. We conclude that psoriasis is a genetically determined disorder that may, to a limited extent, be modified by environmental influences.     

Characterization of the facial microbiome in twins discordant for rosacea

Previously, we determined that genetic and environmental factors contributed equally towards rosacea in twins. To assess an environmental factor, we characterized the malar cheek bacterial microbiome from twins discordant for rosacea. We found no significant difference in facial microbiome alpha and beta diversity between related twins discordant for rosacea. However, the relative percentage abundance of Gordonia and Geobacillus, low‐abundant genera, was positively and negatively associated with rosacea severity, respectively. Our data demonstrate a significant correlation between facial microbiome and severity of rosacea in genetically matched twins and importantly that overall microbiome composition is largely unchanged.     

Severe congenital systemic juvenile xanthogranuloma in monozygotic twins

Abstract:  Juvenile xanthogranuloma, a histiocyte disorder, usually presents with a solitary cutaneous lesion. Juvenile xanthogranuloma with extracutaneous involvement is a rare disease in which significant morbidity and occasional deaths may occur. Monozygotic twins with congenital systemic juvenile xanthogranuloma who presented with multiple skin lesions, hepatosplenomegaly, liver failure, and bone marrow involvement were reported. The diagnosis of systemic juvenile xanthogranuloma was confirmed by histology and immunohistochemical stains of the skin with liver biopsies revealing dense infiltration of lymphohistiocytes with typical Touton giant cells staining positive for CD68 and negative for CD1a and S-100 protein. Both of them received systemic prednisolone 1 mg/kg/day which was gradually tapered off with time according to clinical and investigative responses. At the 17-month follow-up period, both patients showed remarkable regression in all symptoms and laboratory studies.