ABSTRACT
Hypomelanosis of Ito is a rare heterogeneous neurocutaneous disorder often associated with central nervous and musculoskeletal system involvement. Herein, we report the first case of hypomelanosis of Ito in the literature presenting with unilateral dilation of Virchow-Robin spaces (VRS). A girl aged 16 years old presented with a 1-year history of headache. Her physical and neurological examinations were normal, except for the presence of unilateral cutaneous macular hypopigmented whorls and streaks on lower side of the right trunk and lower limb, termed as Blaschko's lines. She had mild deficits in cognitive and adaptive functioning. Hearing, renal, dental, ophthalmologic, metabolic, and cardiac assessments were normal. Brain magnetic resonance imaging (MRI) showed markedly unilateral hemispheric enlarged VRS without contrast enhancement and diffusion restriction. To the best of our knowledge, our case is the first report describing the unilateral hemispheric enlarged VRS in a patient with hypomelanosis of Ito. Our report suggested that hypomelanosis of Ito may have unilateral dilation of VRS in brain MRI.
Subject(s)
Glymphatic System , Hypopigmentation , Adolescent , Dilatation , Dilatation, Pathologic , Female , Humans , Hypopigmentation/complications , Hypopigmentation/diagnostic imaging , Magnetic Resonance ImagingABSTRACT
Terminal osseous dysplasia with pigmentary defects (TODPD; MIM #300244) is an extremely rare, X-linked dominant, in utero male-lethal disease, characterized by skeletal dysplasia of the limbs, pigmentary defects of the skin, and recurrent digital fibromatosis of childhood. Delayed/abnormal ossification of bones of the hands and feet, joint contractures, and dysmorphic facial features may accompany. A single recurrent mutation (c.5217 G>A) of the FLNA gene which causes cryptic splicing was identified as the cause of the disease. We here present the first TODPD case from Turkey with full-blown phenotype who exhibit unique additional findings, hypopigmented patch on the lower extremity following Blaschko's lines and smooth muscle hamartoma of the scalp in review of all the previously reported TODPD cases.
Subject(s)
Bone Diseases, Developmental/physiopathology , Filamins/genetics , Fingers/abnormalities , Genetic Diseases, X-Linked/physiopathology , Limb Deformities, Congenital/physiopathology , Osteochondrodysplasias/physiopathology , Pigmentation Disorders/physiopathology , Skin/physiopathology , Toes/abnormalities , Bone Diseases, Developmental/diagnosis , Bone Diseases, Developmental/diagnostic imaging , Bone Diseases, Developmental/genetics , Child, Preschool , Female , Fingers/diagnostic imaging , Fingers/physiopathology , Genetic Diseases, X-Linked/diagnosis , Genetic Diseases, X-Linked/diagnostic imaging , Genetic Diseases, X-Linked/genetics , Hand/physiopathology , Humans , Hypopigmentation/diagnostic imaging , Hypopigmentation/genetics , Hypopigmentation/physiopathology , Infant , Limb Deformities, Congenital/diagnosis , Limb Deformities, Congenital/diagnostic imaging , Limb Deformities, Congenital/genetics , Mutation , Osteochondrodysplasias/diagnosis , Osteochondrodysplasias/diagnostic imaging , Osteochondrodysplasias/genetics , Phenotype , Pigmentation Disorders/diagnosis , Pigmentation Disorders/diagnostic imaging , Pigmentation Disorders/genetics , Toes/diagnostic imaging , Toes/physiopathology , Turkey/epidemiologyABSTRACT
BACKGROUND: Clinically, depigmentation after local corticosteroid injection is not rare. But there are less articles about its reflectance confocal microscopy (RCM) and histological features. This study aimed to define the RCM features and histopathologic findings of hypopigmentation after local corticosteroid injection and to analyze the correlations between the above two methods. METHODS: Forty cases with hypopigmentation after local corticosteroid injection were used to analyze the clinical and RCM features. Subsequently, for 20 of 40, an excision biopsy of the same imaged areas for histopathologic examination was executed. RESULTS: Our results showed that all 40 cases had round or ellipse hypopigmented macules with obscure boundary and 26 of 40 lesions' long diameter went along limbs. The RCM features and the histological findings revealed all patients had variable degrees of epidermal thinning, flattening rete ridges, reduced melanin, and no inflammatory cell infiltration. MART-1 analysis revealed the number of melanocytes was normal but with no or less melanin by Fontana-Masson staining. CONCLUSIONS: Depigmentation after local corticosteroid injection was a kind of disease with intact melanocytes, whose function was impaired. RCM features offer a high consistency with histopathologic findings. It thus constitutes a promising adjuvant tool for its diagnosis and for therapeutic follow-up.
Subject(s)
Adrenal Cortex Hormones/adverse effects , Hypopigmentation , Microscopy, Confocal/methods , Skin , Adrenal Cortex Hormones/administration & dosage , Adult , Aged , Female , Histocytochemistry , Humans , Hypopigmentation/chemically induced , Hypopigmentation/diagnostic imaging , Hypopigmentation/pathology , Injections, Intradermal/adverse effects , Male , Middle Aged , Skin/chemistry , Skin/diagnostic imaging , Skin/pathologySubject(s)
Hypopigmentation/diagnostic imaging , Skin/diagnostic imaging , Brain/diagnostic imaging , Child, Preschool , Developmental Disabilities/complications , Developmental Disabilities/diagnostic imaging , Humans , Hypopigmentation/complications , Lennox Gastaut Syndrome/complications , Lennox Gastaut Syndrome/diagnostic imaging , Magnetic Resonance Imaging , Male , Neurocutaneous Syndromes/complications , Neurocutaneous Syndromes/diagnostic imagingABSTRACT
BACKGROUND AND OBJECTIVE: Laser "toning" with a Q-switched neodymium-doped yttrium aluminum garnet (Nd:YAG) laser has recently been described to be effective for the treatment of melasma. Leukoderma is a refractory complication of laser toning for melasma, but it can be detected early with ultraviolet (UV) imaging. We assessed the relationship between leukoderma and the frequency or total number of laser toning sessions, as well as the effectiveness of UV imaging for detecting leukoderma. MATERIALS AND METHODS: The subjects included 147 patients who received at least five laser toning sessions. Subjects were classified into three groups according to the frequency of treatment (weekly for Group A1, fortnightly for Group A2, and monthly for Group B), and the incidence of leukoderma was compared among the three groups. In patients who developed leukoderma, the interval between clinical diagnosis and leukoderma detection on UV images (obtained with a Visia Evolution during every laser toning session) was determined to evaluate the effectiveness of UV imaging for the early detection of leukoderma. RESULTS: The overall incidence of leukoderma was 2% (3/147 patients): 3.8% (1/26 patients) in Group A1, 4% (2/49 patients) in Group A2, and 0% (0/72 patients) in Group B. There were no significant differences in the incidence of leukoderma relative to the frequency of laser toning. In two of the three patients who developed leukoderma, it was diagnosed clinically at the 20th and 21st laser toning session, whereas it was diagnosed by UV imaging at the 12th and 13th session. In the remaining 1 patient, leukoderma was detected clinically and by UV imaging at the 7th session. CONCLUSIONS: There was no significant difference in the incidence of leukoderma related to the frequency of laser toning. This study showed that there are two types of leukoderma associated with laser toning. UV imaging was effective for the early detection of type 1 leukoderma, which seems to be related to the cumulative laser energy delivered, but not for detecting type 2 leukoderma, which may be due to direct phototoxicity.
Subject(s)
Hypopigmentation/diagnostic imaging , Hypopigmentation/epidemiology , Laser Therapy/adverse effects , Laser Therapy/methods , Lasers, Solid-State/adverse effects , Melanosis/radiotherapy , Adult , Early Diagnosis , Female , Humans , Hypopigmentation/pathology , Incidence , Melanosis/diagnostic imaging , Melanosis/pathology , Middle Aged , Retrospective Studies , UltrasonographyABSTRACT
BACKGROUND: Diagnosis of cutaneous hypopigmentation can sometimes be challenging. Dermoscopy may play a role in identifying hypo or-depigmented dermatoses. The aim was to investigate which dermoscopic criteria represent potent indicators for the diagnosis of vitiligo, nevus depigmentosus, pityriasis alba, hypopigmented pityriasis versicolor, idiopathic guttate hypomelanosis, hypopigmented mycosis fungoides (MF), lichen sclerosus et atrophicus and ash leaf hypopigmented macules of tuberous sclerosis, and evaluate their diagnostic accuracy. 168 individuals diagnosed with one of these hypopigmented disorders were evaluated for the presence or absence of predetermined dermoscopic criteria. Evaluation of dermatoscopic characteristics in each condition and analysis for sensitivity and specificity of dermatoscopic diagnosis in these hypopigmented lesions was performed. The starburst pattern, micro-koebnerization, and trichrome pattern were unique to vitiligo diagnosis. Vitiligo had higher comet-tail appearance, perifollicular pigmentation, and perilesional hyperpigmentation than other hypopigmented illnesses. Other hypopigmented lesions had greater incidence of amoeboid pattern, faint or diminished pigment network, islands of pigmentation, ill-defined boundaries, pseudopods, and widespread scaling than vitiligo. Finally, perifollicular scaling, comedo-like openings, blue-gray specks, and fibrotic regions excluded vitiligo. Dermoscopy can help identify common hypopigmented skin lesions and reduce the need for skin biopsy. Nevus depigmentosus, pityriasis alba and idiopathic guttate hypomelanosis were the top three hypopigmented dermatoses that could be diagnosed by dermoscopy with 100% sensitivity. Vitiligo was in the second rank (94.7%), followed by lichen sclerosis et atrophicus (93.3%) then hypopigmented MF at 81.2% sensitivity. Dermoscopy sensitivity was lowest in pityriasis versicolor and ash leaf macules of tuberous sclerosis (52.6% and 46.7%, respectively).
Subject(s)
Dermoscopy , Hypopigmentation , Sensitivity and Specificity , Vitiligo , Humans , Hypopigmentation/diagnosis , Hypopigmentation/diagnostic imaging , Hypopigmentation/pathology , Female , Male , Adolescent , Adult , Child , Vitiligo/diagnosis , Vitiligo/diagnostic imaging , Vitiligo/pathology , Young Adult , Middle Aged , Child, Preschool , Skin/pathology , Skin/diagnostic imaging , Diagnosis, Differential , AgedSubject(s)
Foot Dermatoses/diagnostic imaging , Hand Dermatoses/diagnostic imaging , Hypopigmentation/diagnostic imaging , Adolescent , Biopsy , Dermoscopy , Diagnosis, Differential , Female , Foot Dermatoses/pathology , Hand Dermatoses/pathology , Humans , Hypopigmentation/pathology , Male , Skin/pathology , Young AdultABSTRACT
Hypomelanosis of Ito (HI) is a rare neuroectodermal disorder often associated with mental retardation and epilepsy. We report on four new HI patients presenting with heterogeneous seizure manifestations and we review the literature concerning epileptic seizures in HI. At one extreme, there are patients with generalized seizures well controlled by drug treatment, whereas at the opposite there are patients with severe, often pharmacoresistant, focal seizures. The genetic substrate for HI syndrome is not homogenous and only partially understood. Further researches are required to shed light on the pathogenesis of HI phenotypes.
Subject(s)
Hypopigmentation , Seizures , Brain/diagnostic imaging , Brain/physiopathology , Child , Electroencephalography , Female , Humans , Hypopigmentation/diagnostic imaging , Hypopigmentation/drug therapy , Hypopigmentation/physiopathology , Retrospective Studies , Seizures/diagnostic imaging , Seizures/drug therapy , Seizures/physiopathology , Tomography, X-Ray Computed , Young AdultABSTRACT
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.
Subject(s)
Codon, Nonsense/genetics , Deafness/genetics , Hyperthyroidism/genetics , Hypopigmentation/genetics , Kallmann Syndrome/genetics , SOXE Transcription Factors/genetics , Adult , DNA Mutational Analysis , Deafness/complications , Deafness/diagnostic imaging , Humans , Hyperthyroidism/complications , Hyperthyroidism/diagnostic imaging , Hypopigmentation/complications , Hypopigmentation/diagnostic imaging , Kallmann Syndrome/complications , Kallmann Syndrome/diagnostic imaging , Magnetic Resonance Imaging , MaleSubject(s)
Dermoscopy , Hypopigmentation/diagnostic imaging , Adult , Humans , Hypopigmentation/pathology , Male , Skin/diagnostic imaging , Skin/pathologySubject(s)
Bowen's Disease/diagnostic imaging , Hypopigmentation/diagnostic imaging , Melanoma/diagnostic imaging , Skin Neoplasms/diagnostic imaging , Aged , Dermoscopy , Diagnosis, Differential , Female , Humans , Hypopigmentation/pathology , Melanoma/pathology , Melanoma/surgery , Shoulder , Skin/diagnostic imaging , Skin/pathology , Skin Neoplasms/pathology , Skin Neoplasms/surgery , Treatment OutcomeSubject(s)
Acne Vulgaris/diagnostic imaging , Facial Dermatoses/diagnostic imaging , Hypopigmentation/diagnostic imaging , Keratosis/diagnostic imaging , Nose/abnormalities , Acne Vulgaris/etiology , Child , Dermoscopy , Female , Humans , Hypopigmentation/etiology , Keratosis/etiology , Skin/diagnostic imagingSubject(s)
Hair/diagnostic imaging , Head and Neck Neoplasms/diagnostic imaging , Hypopigmentation/diagnostic imaging , Nevus/diagnostic imaging , Scalp , Skin Neoplasms/diagnostic imaging , Child, Preschool , Dermoscopy , Female , Hair Color , Head and Neck Neoplasms/congenital , Humans , Hypopigmentation/congenital , Infant , Nevus/congenital , Skin Neoplasms/congenitalSubject(s)
Hypopigmentation/diagnostic imaging , Adult , Aged , Aged, 80 and over , Dermoscopy , Diagnosis, Differential , Female , Humans , Hypopigmentation/diagnosis , Male , Middle Aged , Vitiligo/diagnosisABSTRACT
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