Subject(s)
Monilethrix/diagnosis , Alopecia/etiology , Child, Preschool , Hair/pathology , Humans , MaleSubject(s)
Dermoscopy , Hair/pathology , Monilethrix/diagnosis , Alopecia/etiology , Child, Preschool , Female , Humans , Monilethrix/complicationsSubject(s)
Monilethrix/diagnosis , Alopecia , Child, Preschool , Diagnosis, Differential , Female , HumansABSTRACT
Monilethrix is a rare genodermatosis with high penetrance and variable expressivity. This is a case report of a Danish family with varying phenotypical presentations. The family members were diagnosed using dermatoscopy and microscopy, which were subsequently supported by gene sequence analysis. No cure of monilethrix exists, but a single case report shows promising results using low dosage of oral minoxidil. Reducing hair dressing trauma to diminish weathering remains the best prophylaxis.
Subject(s)
Monilethrix/diagnosis , Adult , Child , Child, Preschool , Family , Female , Genetic Testing , Humans , Male , Monilethrix/genetics , Monilethrix/pathologyABSTRACT
Monilethrix is a rare genodermatosis characterized by a hair shaft dysplasia responsible for hypotrichosis. We report the case of a child with monilethrix with no associated cases in the family. Trichoscopy facilitated the diagnosis. A 2-year-old boy presented with diffuse alopecia and persistent fragile hair for several months. Clinical examination revealed alopecia with hairs broken several millimeters from the scalp. Trichoscopy revealed zones of dystrophic constriction of the hair shaft, separated at regular intervals by elliptical nodes of normal thickness, giving a "necklace" appearance. The diagnosis of monilethrix was made on the basis of these specific features. The diagnosis of monilethrix was more difficult to establish in our patient owing to the absence of any familial cases.
Subject(s)
Dermoscopy , Monilethrix/diagnosis , Alopecia/etiology , Child, Preschool , Hair/pathology , Humans , Male , Monilethrix/complicationsABSTRACT
Hair diseases represent frequent complaints in dermatology clinics, and they can be caused by a number of conditions reflected by specific diagnoses. Hair loss is not uncommon in the pediatric group, but its patterns in this group are different from those seen in adults. Additionally, in children, these disorders can have psychological effects that can interfere with growth and development. Hair is easily accessible for examination, and dermatologists are in the enviable situation of being able to study many disorders using simple diagnostic techniques. To fully understand hair loss during childhood, a basic comprehension of normal hair growth is necessary. Knowledge of the normal range and variation observed in the hair of children further enhances its assessment. This chapter has been written in an attempt to facilitate the diagnostic process during daily practice by helping to distinguish between acquired and congenital hair diseases. It can sometimes be difficult to differentiate between abnormality and normality in neonatal hair aspects. Management of hair disorders can be quite a daunting task for the attending physician and mandates a holistic approach to the patient. Some hair disturbances have no effective treatment, and for others, no single treatment is 100% successful. If no effective treatment for a hair loss disease exists, a cosmetic approach is important.
Subject(s)
Alopecia Areata/diagnosis , Hair Diseases/diagnosis , Scalp Dermatoses/diagnosis , Tinea Capitis/diagnosis , Trichotillomania/diagnosis , Adrenal Cortex Hormones/therapeutic use , Alopecia/diagnosis , Alopecia Areata/therapy , Child , Child, Preschool , Diagnosis, Differential , Humans , Immunotherapy , Infant , Infant, Newborn , Loose Anagen Hair Syndrome/diagnosis , Minoxidil/therapeutic use , Monilethrix/diagnosis , Trichothiodystrophy Syndromes/diagnosis , Vasodilator Agents/therapeutic useABSTRACT
Monilethrix is a hair shaft anomaly characterized by beaded hair with periodic changes in hair thickness. Mutations in the desmoglein 4 (DSG4) gene reportedly underlie the autosomal recessive form of the disease. However, the pathogenesis and cellular basis for the DSG4 mutation-induced monilethrix remained largely unknown. We report a Japanese female patient with monilethrix. Observation of her hair shaft by means of transmission electron microscopy showed fewer desmosomes and abnormal keratinization. Genetic analysis revealed a homozygous mutation, c.2119delG (p.Asp707Ilefs*109), in the DSG4 gene, which was predicted to cause a frameshift and premature termination in the intracellular region of the DSG4 protein. The mutation has not been reported previously. In the patient's hair shaft, we detected reduced but partial expression of the mutant DSG4 protein. Cellular analyses demonstrated that the mutant DSG4 lost its affinity to plakoglobin and accumulated in the endoplasmic reticulum (ER). The amounts of mutant DSG4 were increased by proteasome inhibitor treatment, and the expression of an ER chaperone, GRP78/BiP, was elevated in the patient's skin. Collectively, these results suggest that the dysfunctional mutated DSG4, tethered in the ER, undergoes ER-associated degradation, leading to unfolded protein response induction, and thus ER stress may have a role in the pathogenesis of monilethrix.
Subject(s)
Desmogleins/genetics , Endoplasmic Reticulum Stress/physiology , Frameshift Mutation/genetics , Genes, Recessive/genetics , Monilethrix/genetics , Monilethrix/physiopathology , Adult , Amino Acid Sequence , Desmogleins/metabolism , Endoplasmic Reticulum Chaperone BiP , Female , Hair Follicle/metabolism , Hair Follicle/pathology , Hair Follicle/ultrastructure , Heat-Shock Proteins/metabolism , Homozygote , Humans , Microscopy, Electron, Transmission , Molecular Sequence Data , Monilethrix/diagnosis , Pedigree , Skin/metabolism , Skin/pathologyABSTRACT
A 4-year-old girl presented with sparse, brittle hair on her entire scalp and keratosis pilaris on the nape of her neck. Subtle microscopic and macroscopic diagnostic features presented a challenge for physicians. Only repeated, optimized light microscopy revealed the diagnosis of monilethrix, a rare genetic hair shaft disorder with a variable phenotypic expression and inheritance pattern. We provide a short overview of methods that maximize the diagnostic yield in a clinical setting and of light microscopy to reach a rapid and accurate diagnosis in difficult cases. We conclude with essential learning points, including a link to assistance with hair microscopy from a tertiary center.
Subject(s)
Abnormalities, Multiple/diagnosis , Darier Disease/diagnosis , Dermoscopy/methods , Eyebrows/abnormalities , Hair/pathology , Monilethrix/diagnosis , Abnormalities, Multiple/pathology , Child, Preschool , Darier Disease/pathology , Diagnosis, Differential , Eyebrows/pathology , Female , Humans , Monilethrix/pathologyABSTRACT
Presentamos un caso clínico de pseudomoniletrhix, defecto estructural del tallo piloso con aumento de la fragilidad capilar; en una paciente de sexo femenino de 22 años de edad. Realizamos una revisión de la patología considerando, en especial, el diagnóstico diferencial con el moniletrix.
We report a case of pseudomonilethrix, structural defect of the hair shaft with increased capillary fragility, in a female patient 22 years of age. We review the pathology especially considering the differential diagnosis with monilethrix.
Subject(s)
Humans , Female , Young Adult , Hair Follicle/pathology , Monilethrix/diagnosis , Monilethrix/therapy , Diagnosis, Differential , Hair Diseases/diagnosis , Hair Diseases/therapy , Capillary FragilityABSTRACT
Presentamos un caso clínico de pseudomoniletrhix, defecto estructural del tallo piloso con aumento de la fragilidad capilar; en una paciente de sexo femenino de 22 años de edad. Realizamos una revisión de la patología considerando, en especial, el diagnóstico diferencial con el moniletrix. (AU)
We report a case of pseudomonilethrix, structural defect of the hair shaft with increased capillary fragility, in a female patient 22 years of age. We review the pathology especially considering the differential diagnosis with monilethrix. (AU)
Subject(s)
Humans , Female , Young Adult , Hair Follicle/pathology , Monilethrix/diagnosis , Monilethrix/therapy , Diagnosis, Differential , Capillary Fragility , Hair Diseases/diagnosis , Hair Diseases/therapyABSTRACT
A 3-year-old girl showed fine, sparse, and brittle scalp hair without signs of cicatricial cutaneous alterations. Dermoscopy as well as scanning electron microscopy revealed elliptical nodes as well as constricted regions along the hair shaft.
