RESUMO
FLOTCH (leukonychia totalis-trichilemmal cysts-ciliary dystrophy syndrome) syndrome is a rare genetic cutaneous disorder primarily characterized by multiple recurrent trichilemmal pilar cysts and leukonychia. It may be associated with ciliary dystrophy, koilonychia, and/or less frequently renal calculi and pancreatitis inherited in an autosomal-dominant fashion. We report the case of a 25-year-old Black woman who presented with white-colored fingernails and enlarging cysts in multiple locations including the scalp, rib cage, and forearm and was diagnosed with suspected FLOTCH syndrome. Pilar cysts in unusual locations along with distinct nail changes should prompt clinicians to consider further investigation for conditions such as FLOTCH syndrome.
Assuntos
Blefarite , Cisto Epidérmico , Hipopigmentação , Unhas Malformadas , Feminino , Humanos , Adulto , Cisto Epidérmico/diagnóstico , Blefarite/complicações , Blefarite/genética , Hipopigmentação/complicações , Unhas Malformadas/complicações , Unhas Malformadas/genéticaRESUMO
There are limited treatments for dyschromia in burn hypertrophic scars (HTSs). Initial work in Duroc pig models showed that regions of scar that are light or dark have equal numbers of melanocytes. This study aims to confirm melanocyte presence in regions of hypo- and hyper-pigmentation in an animal model and patient samples. In a Duroc pig model, melanocyte presence was confirmed using en face staining. Patients with dyschromic HTSs had demographic, injury details, and melanin indices collected. Punch biopsies were taken of regions of hyper-, hypo-, or normally pigmented scar and skin. Biopsies were processed to obtain epidermal sheets (ESs). A subset of ESs were en face stained with melanocyte marker, S100ß. Melanocytes were isolated from a different subset. Melanocytes were treated with NDP α-MSH, a pigmentation stimulator. mRNA was isolated from cells, and was used to evaluate gene expression of melanin-synthetic genes. In patient and pig scars, regions of hyper-, hypo-, and normal pigmentation had significantly different melanin indices. S100ß en face staining showed that regions of hyper- and hypo-pigmentation contained the same number of melanocytes, but these cells had different dendricity/activity. Treatment of hypo-pigmented melanocytes with NDP α-MSH produced melanin by microscopy. Melanin-synthetic genes were upregulated in treated cells over controls. While traditionally it may be thought that hypopigmented regions of burn HTS display this phenotype because of the absence of pigment-producing cells, these data show that inactive melanocytes are present in these scar regions. By treating with a pigment stimulator, cells can be induced to re-pigment.
Assuntos
Queimaduras/patologia , Cicatriz Hipertrófica/patologia , Hipopigmentação/patologia , Melanócitos/patologia , alfa-MSH/metabolismo , Adulto , Animais , Biópsia , Vias Biossintéticas , Queimaduras/complicações , Queimaduras/genética , Células Cultivadas , Cicatriz Hipertrófica/complicações , Cicatriz Hipertrófica/genética , Humanos , Hiperpigmentação/complicações , Hiperpigmentação/patologia , Hipopigmentação/complicações , Hipopigmentação/genética , Masculino , Melaninas/biossíntese , Melanócitos/metabolismo , Pessoa de Meia-Idade , Fenótipo , Pigmentação , Suínos , Regulação para Cima/genética , Adulto JovemRESUMO
ABSTRACT: Hypopigmented mycosis fungoides (HMF) is a clinical variant of MF with a presentation similar to other hypopigmented diseases, especially vitiligo. In this article, we report an adult case of HMF mimicking vitiligo. A 53-year-old man presented with an asymptomatic well-defined focal and hypopigmented patch with erythematous to brownish macules on the flank which had been developing over several months without other cutaneous findings. He had no past medical or trauma history. Skin biopsy from the hypopigmented patch indicated a slightly band-like, superficial dermal infiltrate of lymphocytes with mild cytologic atypia and epidermotropism. Fontana-Masson and Mart-1 stains showed a decrease in the epidermal pigment and the number of basal melanocytes. In addition, CD4 and CD8 stains were positive, predominantly the CD8 stain, and loss of CD7 stain was noted in the epidermal atypical lymphocytes. A T-cell receptor gene rearrangement study from the hyperpigmented area showed monoclonality. Finally, we diagnosed the patient with HMF. After about 17 months of treatment with narrow-band ultraviolet B, the hypopigmented lesion had notably improved in both the clinical and histological aspects. The clinical appearance of our case was similar to vitiligo while clinical improvement was also exceptionally similar to the skin findings from follicular repigmentation after narrow-band ultraviolet B treatment in vitiligo. Therefore, dermatologists should consider the clinical differential diagnosis of HMF in patients with an asymptomatic hypopigmentation, especially in dark-skinned Asian patients.
Assuntos
Micose Fungoide/diagnóstico , Neoplasias Cutâneas/diagnóstico , Vitiligo/diagnóstico , Diagnóstico Diferencial , Humanos , Hipopigmentação/complicações , Hipopigmentação/patologia , Imuno-Histoquímica , Masculino , Pessoa de Meia-Idade , Micose Fungoide/complicações , Micose Fungoide/patologia , Neoplasias Cutâneas/complicações , Neoplasias Cutâneas/patologiaRESUMO
Woolly hair nevus consists of a patch of curly and hypopigmented hair that is restricted to an area of the scalp. It is usually benign but it can be associated with other systemic findings. Trichoscopy and dermoscopy may be useful when analyzing this entity. The authors describe a case of woolly hair nevus in a 5-year-old boy and present a review of the literature of woolly hair nevus, including classification, histopathology, associated systemic findings, and the recent described genetic mutations.
Assuntos
Cabelo/anormalidades , Hipopigmentação/complicações , Nevo/complicações , Neoplasias Cutâneas/complicações , Pré-Escolar , Cabelo/patologia , Doenças do Cabelo/patologia , Humanos , MasculinoRESUMO
BACKGROUND: Hypopigmented macules are seen in a variety of disorders and the diagnosis rests on clinicopathological correlation. However, some cases are difficult to classify and pose a diagnostic challenge. AIM: To describe the clinical and histopathological features of patients with hypopigmented macules and follicular spongiosis on histopathology. MATERIALS AND METHODS: We undertook a retrospective analysis of clinical and histopathological findings in 12 patients who presented with clinically nondiagnostic hypopigmented macules and showed follicular spongiosis on skin biopsy, at All India Institute of Medical Sciences, New Delhi, India between January 2015 and October 2016. The findings were compared with 12 patients with "unclassified" hypopigmented macules, who did not show follicular spongiosis on skin biopsy. RESULTS: A total of 12 patients with hypopigmented macules showed spongiosis affecting the follicular epithelium on histopathology. There were eight men and four women, most in their second decade (mean age 19.1 ± 8.05 years), presenting with hypopigmented macules most commonly on the upper limbs, for a mean duration of 6.33 ± 5.10 months. Clinically evident lesional hair loss was seen in all patients, and follicular prominences in seven (58%) patients. Histological features suggestive of other diagnosis, namely leprosy, mycosis fungoides or sarcoidosis were not seen in any biopsy. Alcian blue stain revealed an minimal amount of mucin in one biopsy. Clinically apparent hair loss and follicular prominences were found to be statistically significantly associated with histological evidence of follicular spongiosis (P < 0.001 and 0.003, respectively). LIMITATIONS: Our study is limited by its retrospective design and small sample size. CONCLUSIONS: Patients with hypopigmented macules and follicular spongiosis on histopathology may represent a distinct clinicopathological entity that is associated with lesional hair loss and follicular prominences. It is probably a variant of an endogenous dermatitis similar to pityriasis alba.
Assuntos
Alopecia/patologia , Folículo Piloso/patologia , Hipopigmentação/patologia , Adolescente , Corticosteroides/uso terapêutico , Adulto , Alopecia/complicações , Alopecia/tratamento farmacológico , Biópsia , Criança , Feminino , Humanos , Hipopigmentação/complicações , Hipopigmentação/tratamento farmacológico , Masculino , Estudos Retrospectivos , Adulto JovemAssuntos
Hipopigmentação/diagnóstico por imagem , Pele/diagnóstico por imagem , Encéfalo/diagnóstico por imagem , Pré-Escolar , Deficiências do Desenvolvimento/complicações , Deficiências do Desenvolvimento/diagnóstico por imagem , Humanos , Hipopigmentação/complicações , Síndrome de Lennox-Gastaut/complicações , Síndrome de Lennox-Gastaut/diagnóstico por imagem , Imageamento por Ressonância Magnética , Masculino , Síndromes Neurocutâneas/complicações , Síndromes Neurocutâneas/diagnóstico por imagemRESUMO
A 36-year-old woman presented with eye pain and blurring of vision in her right eye. On eye examination, it was noted that there were angle-closure glaucoma and anterior uveitis in both eyes. Ocular ultrasound showed short axial lengths as well as a choroidal thickening in both eyes, confirming the diagnosis of nanophthalmos. Nanophthalmos is a condition where the eye is abnormally short, resulting in axial hyperopia and predisposing it to angle-closure glaucoma. The patient was initially managed medically, but the glaucoma was intractable. The patient underwent repeated sessions of transscleral cyclophotocoagulation which eventually lowered the intraocular pressure. The management of nanophthalmic eyes can be quite challenging due to the risk of inciting uveal effusion syndrome with any form of intraocular surgery. Controlled and repeated sessions of transscleral cyclophotocoagulation may be considered as a viable management option in these cases.
Assuntos
Glaucoma de Ângulo Fechado/cirurgia , Fotocoagulação a Laser/métodos , Microftalmia/cirurgia , Uveíte Anterior/complicações , Adulto , Feminino , Glaucoma de Ângulo Fechado/diagnóstico por imagem , Glaucoma de Ângulo Fechado/etiologia , Humanos , Hiperopia/complicações , Hipopigmentação/complicações , Ultrassonografia , Uveíte Anterior/diagnóstico por imagemAssuntos
Alopecia/diagnóstico , Alopecia/patologia , Pele/patologia , Alopecia/complicações , Biópsia , Dermoscopia , Sobrancelhas , Dermatoses Faciais/etiologia , Feminino , Fibrose , Testa , Cabelo/diagnóstico por imagem , Humanos , Hiperpigmentação/etiologia , Hipopigmentação/complicações , Líquen Plano/complicações , Couro CabeludoAssuntos
Erupções Acneiformes/diagnóstico , Histiocitose de Células de Langerhans/diagnóstico , Hipopigmentação/diagnóstico , Erupções Acneiformes/complicações , Adulto , Diagnóstico Diferencial , Histiocitose de Células de Langerhans/complicações , Humanos , Hipopigmentação/complicações , Masculino , Adulto JovemRESUMO
Hypomelanosis of Ito is a rare neurocutaneous syndrome. Cutaneous involvement is characterised by streaks and swirls of hypopigmentation arranged in a Blaschkoid pattern. Neural involvement along with other systemic features are seen. We report a case of a 13-year-old boy who presented with the characteristic skin involvement of hypomelanosis of Ito, mental retardation, teeth abnormalities and gynaecomastia along with psoriasis.
Assuntos
Ginecomastia/complicações , Hipopigmentação/complicações , Anormalidades Dentárias/etiologia , Adolescente , Diagnóstico Diferencial , Humanos , Hipopigmentação/diagnóstico , Deficiência Intelectual/etiologia , Masculino , Psoríase/etiologiaAssuntos
Linfonodos/patologia , Doença de Paget Extramamária/diagnóstico , Doença de Paget Extramamária/secundário , Neoplasias Cutâneas/diagnóstico , Neoplasias Cutâneas/patologia , Idoso , Humanos , Hipopigmentação/complicações , Metástase Linfática , Masculino , Invasividade Neoplásica , Doença de Paget Extramamária/complicações , Pelve , Neoplasias Cutâneas/complicaçõesRESUMO
Kallmann syndrome (KS) is a clinically and genetically heterogeneous disorder characterized by hypogonadotropic hypogonadism and olfactory dysfunction. Recently, mutations in SOX10, a well-known causative gene of Waardenburg syndrome (WS), have been identified in a few KS patients with additional developmental defects including hearing loss. However, the understanding of SOX10 mutation associates with KS and other clinical consequences remains fragmentary. A 30-year-old Chinese male patient presented with no pubertal sex development when he was at the age of twelve years. Additionally, he showed anosmia, sensory deafness, and blue irises. Last year, he developed clinical symptoms of hyperthyroidism with a fast heartbeat, heat intolerance and weight loss. Blood examinations revealed low levels of FSH, LH, and testosterone. Thyroid function showed high levels of FT3, FT4 and extremely low level of TSH. Molecular analysis detected a de novo (c.565G>T/p.E189X) mutation in SOX10, which has previously been reported in a patient with WS4 (WS with Hirschsprung). The mutation was predicted to be probably damaging. These results highlight the significance of SOX10 haploinsufficiency as a genetic cause of KS. Importantly, our result implies that the same SOX10 mutation can underlie both typical KS and WS, while the correlation between SOX10 and hyperthyroidism still needs to be clarified in the future.
Assuntos
Códon sem Sentido/genética , Surdez/genética , Hipertireoidismo/genética , Hipopigmentação/genética , Síndrome de Kallmann/genética , Fatores de Transcrição SOXE/genética , Adulto , Análise Mutacional de DNA , Surdez/complicações , Surdez/diagnóstico por imagem , Humanos , Hipertireoidismo/complicações , Hipertireoidismo/diagnóstico por imagem , Hipopigmentação/complicações , Hipopigmentação/diagnóstico por imagem , Síndrome de Kallmann/complicações , Síndrome de Kallmann/diagnóstico por imagem , Imageamento por Ressonância Magnética , MasculinoRESUMO
BACKGROUND: Hypopigmented mycosis fungoides (hMF) is a rare subtype of mycosis fungoides. The aim of this study was to identify the clinical-epidemiological profile of our patient group and also to provide additional information about treatment responses and prognosis. METHODS: This is a cross-sectional retrospective observational study, with exploratory analysis. The outcome variables were disease progression and related death. RESULTS: Twenty patients with hMF were selected from a group of 102 patients diagnosed with MF. There was no gender difference (10 females and 10 males). Mean age at diagnosis was 43.85 years, and most patients had mixed or black skin color. The mean time between the onset of the lesions and the diagnosis was 66.75 months. Patients were equally distributed in stages IA (50%) and IB (50%). Photochemotherapy (psoralen and ultraviolet A) was the predominant therapeutic modality. The mean follow-up time was 7.25 years. In 10%, disease progression was observed. Death related to the disease occurred in one patient. CONCLUSIONS: The clinical and epidemiological profile of patients with hypopigmented MF found in our sample is in agreement with what is described in the literature, with the exception of the age at diagnosis, higher than expected. Diagnostic delay time, despite long, is also consistent with the medical literature; however, in this sample, we had two cases of disease progression, with death of one patient, despite the treatment, which is extremely important since hypopigmented MF is usually associated with good prognosis.
Assuntos
Hipopigmentação/diagnóstico , Hipopigmentação/tratamento farmacológico , Micose Fungoide/diagnóstico , Micose Fungoide/tratamento farmacológico , Adolescente , Adulto , Idade de Início , Idoso , Brasil/epidemiologia , Criança , Estudos Transversais , Diagnóstico Tardio , Progressão da Doença , Feminino , Seguimentos , Humanos , Hipopigmentação/complicações , Hipopigmentação/epidemiologia , Masculino , Pessoa de Meia-Idade , Micose Fungoide/complicações , Micose Fungoide/epidemiologia , Terapia PUVA , Estudos Retrospectivos , Taxa de Sobrevida , Adulto JovemAssuntos
Hipopigmentação/complicações , Melanoma/diagnóstico , Neoplasias Cutâneas/diagnóstico , Vitiligo/complicações , Adulto , Diagnóstico Diferencial , Face , Humanos , Masculino , Melanoma/complicações , Melanoma/secundário , Pescoço , Metástase Neoplásica , Neoplasias Cutâneas/complicações , Neoplasias Cutâneas/patologiaAssuntos
Albinismo/genética , Cromossomos Humanos Par 13/genética , Hipopigmentação/genética , Síndrome da Trissomia do Cromossomo 13 , Biópsia , Criança , Feminino , Humanos , Hipopigmentação/complicações , Mosaicismo , Mutação , Análise de Sequência com Séries de Oligonucleotídeos , Reação em Cadeia da Polimerase , Pele/patologia , Pigmentação da Pele , TrissomiaRESUMO
An 11-year-old Tanzanian girl presented with diffuse verrucous lesions of varying morphology, scarring alopecia, and keloid scars over the face with a predilection for the ears. Physical examination revealed dark keratoderma and patches of hypopigmentation near the midline of the dorsal trunk (Figure 1a). Her forearms were densely covered by verrucous lesions with the exception of a clear linear patch on the dorsal aspect of the left forearm (Figure 1b). The perioral area was notable for white spires projecting from verrucous papules (Figure 1c) while the oral mucosa and teeth appeared normal on visual examination. The rest of her body, including the palms and soles, was covered by patchy, scaly lesions of varying severity.