Incontinentia pigmenti acb.romians(Ito) is characterized by progressive bizarre or whorl-like hypopigmentation on trunk and extrementies during childhood. It is similar to a negative picture of incontinentia pigmenti(Blocb-Sulzberger) and not infrequently associated with mental, bony and ocular defects. The incidence of this disease is predominent in femaIe without hereditary background. Case 1. Two years old female was visited to our clinic because of mottled depigmented patches on right thigh for about 8 months. Case 2. 14 months oId female was visited to our clinic because of linear and. mottled depigmented natches on their limbs for about 7 months. Histopathological findings of both cases shows the focal depigmentation on basal layer. They are treated with steroid ointment with moderate to good effects.
Extremities ; Female ; Humans ; Hypopigmentation ; Incidence ; Incontinentia Pigmenti* ; Pigmentation Disorders* ; Thigh

Incontinentia pigmenti achromians (Ito) begins during childhood and is characterized by progressive appearance of bizarre patchy or whorl-like hypopigmentation without any preceeding or associated inflammatory changes in a fashion that resembles a negative piture of pigmentation in patients with incontinentia pigmenti. Mental, bony and ocular symptoms are not infrequently found in association with incontinentia pigmenti achromians. The incidence is high in the female sex, and there is no hereditary background. A 24-year-old Korean soldier was first seen in May 1974 in dermatologic clinic of Capital Armed Forces General Hospital. Bizarre, reticulated, linear and whorllike hypopigmented macular lesions were noted. On the skin of the trunk and both extremities. The lesions started at the age of 4 year and developed without any inflarnmatory signs Family history did not disclose any type of pigmentation The disorder, and mental, bony and occular manifestations were not found. Biopsy specimen demonstrated that the amount of melanin in the basal layer was decreased in the hypopigmented area, and reveals neither inflammatory changes nor dropping off of melanin granules into the dermis.
Arm ; Biopsy ; Dermis ; Extremities ; Female ; Hospitals, General ; Humans ; Hypopigmentation ; Incidence ; Incontinentia Pigmenti ; Melanins ; Military Personnel ; Pigmentation ; Pigmentation Disorders ; Skin ; Young Adult

Disfiguring hyperpigmentation of the exposed areas may have impartant and lasting effects on the emotional well-being of the patient. And many attempts to treat areas of hyperpigmentation have been earried out, but all of them are not very successful. Recently 4-isopropylcatechol has been known to inhibit melanin pigmentation with a selective action on melanocytes either destroying or inactivating the melanocytes experimentally. There is no report on its clinical trial till now. In this study, 1% 4-isopropylcatechol cream was topieally applied to the hyperpigmented lesions of 29 patieots of melasma, freckle, and cafe-au-lait spot. The bleaching effect on meiasmas was very satisfactory in all patients but coantact dermatltis in 3 patients and reticular hyperpigmentation with areas of depigmented spots in one patient were developed as the side effects of the drug. Freckle and cafe-au-Iait spots were not bleached.
Cafe-au-Lait Spots ; Humans ; Hyperpigmentation ; Melanins ; Melanocytes ; Melanosis ; Pigmentation

Reticulated acropigmentation of Dohi (RAD), dyschromatosis symmetrica hereditaria, is the localized acral form of dyschromatosis universalis hereditaria that has an autosomal dominant pattern of inheritance. RAD is characterized by the mixed hyperpigmented and hypopigmented macules and its bilaterally symmetrical distribution on the back of the hands and feet, wrists, knees, and elbows. The presented case is a 18-year-old female had relatively well demarcated symmetric hyperpigmented and hypopigmented macules and patches on dorsa of hands and feet, forearms, lower legs and face. These pigmentations at first appeared at 3 years old on dorsa of her fingers and toes, thereafter these pigmentations spread progressively to the proximal portion of her body. Her pedigree shows autosomal dominant pattern of inheritance. Histologically, there is markedly decreased basal pigmentation with preserved melanocytes. Immunohistochemical stain for the Melan-A revealed both areas of either decreased or increased Melan-A positive melanocytes in basal layer, which suggests that Reticulated acropigmentation of Dohi is a genetic disorder of functional derangement of melanocytes.
Adolescent ; Elbow ; Female ; Fingers ; Foot ; Forearm ; Hand ; Humans ; Hyperpigmentation ; Hypopigmentation ; Knee ; Leg ; MART-1 Antigen ; Melanocytes ; Pedigree ; Pigmentation ; Pigmentation Disorders ; Skin Diseases, Genetic ; Toes ; Wills ; Wrist

OBJECTIVETo identify the mutations of the tyrosinase gene (TYR) and P gene in patients with oculocutaneous albinism (OCA).

METHODSPolymerase chain reaction (PCR) and denaturing high performance liquid chromatography (DHPLC) were applied to detect the mutations in all exons of TYR gene and P gene. Then DNA sequencing and restriction endonuclease analysis were used to confirm the mutations detected by DHPLC. Novel mutations were screened in 100 unrelated persons with normal phenotypes to exclude the possibility of polymorphism.

RESULTSTwo mutations were detected in the P gene of the three patients and none in TYR gene. Heterozygous mutation of T450M in exon 13 of the P gene was detected in patient 1. Patient 2 had a heterozygous mutation of T450M in exon 13 and a heterozygous mutation of G775R in exon 23 of the P gene. Patient 3 had a heterozygous mutation of G775R as well. Restriction endonuclease analysis of the P gene exon 13 showed that the Oli I site had partly disappeared resulting from the heterozygous mutation T450M in patient 1 and patient 2, but not in 100 unrelated individuals. The heterozygous mutation T450M is a novel mutation.

CONCLUSIONGene diagnosis of OCA can be carried out effectively by combining PCR, DHPLC, DNA sequencing and restriction endonuclease analysis.

Albinism, Oculocutaneous ; genetics ; Base Sequence ; Catechol Oxidase ; genetics ; Child, Preschool ; DNA Mutational Analysis ; Exons ; genetics ; Female ; Hermanski-Pudlak Syndrome ; genetics ; Humans ; Monophenol Monooxygenase ; genetics ; Mutation ; Young Adult

Punctate leukoderma is characterized of the destruction of melanocytes after chemical of physical damage. In addition, the term is broadly used to describe hypopigmented lesions induced in vitiligo patients after psolaren administration with ultraviolet A and in psoriasis patients with repetitive ultraviolet B phototherapy. The Q-switched neodymium-doped yttrium aluminum garnet (Nd:YAG) laser in treating melasma is frequently reported to be associated with the cause. A 44-year-old woman presented to the department with numerous confetti-like hypopigmented macules on both cheeks for over a year. Weekly treatment of 1,064 nm Qswitched Nd:YAG laser (2.0–3.4 J, 8 mm spot-size) therapy at a non-dermatologic clinic had induced both hyperpigmentation and hypopigmentation lesions. Biopsy performed at both hyperpigmented and hypopigmented lesions revealed variable melanin pigmentation with segmental loss and infiltration of pigment incontinence. The patient was diagnosed with punctate leukoderma and was directed for narrow-band ultraviolet B phototherapy. Herein, we report a case of punctate leukoderma after inadvertent use of 1,064 nm Q-switched Nd:YAG laser.
Adult ; Aluminum ; Biopsy ; Cheek ; Female ; Humans ; Hyperpigmentation ; Hypopigmentation ; Melanins ; Melanocytes ; Melanosis ; Phototherapy ; Pigmentation ; Psoriasis ; Vitiligo ; Yttrium

BACKGROUND: Transfer of melanosomes from melanocytes to the neighboring keratinocytes is a critical step in normal pigmentation. However, the mechanism of melanosome transfer and the regulation of pigmentation by the keratinocyte-melanocyte interactions are not well understood. It has recently been identified that keratinocytes use Foxn1 (transcription factor) to recruit melanocytes and induce their own pigmentation. OBJECTIVE: The purpose of this study was to assess the expression of Foxn1 in hypopigmentary disorders (vitiligo, pityriasis alba (P. alba) and postinflammatory hypopigmentation (PIHo)) and hyperpigmentary disorders (melasma, caf?-au-lait macule (CALM) and postinflammatory hyperpigmentation (PIHer)). METHODS: Immunohistochemical staining was performed on the formalin-fixed, paraffin-embedded tissue sections of hypopigmentary and hyperpigmentary disorders using anti-Foxn1 antibody with an avidin-biotin peroxidase complex procedure. The intraepidermal melanin pigments were examined in all the lesions by Fontana-Masson staining. RESULTS: We found a significantly lower Foxn1 expression (p<0.05) and less intraepidermal melanin pigments (p< 0.01) in the hypopigmentary disorders as compared to that of the hyperpigmentary disorders. In the hypopigmentary disorders such as vitiligo, P. alba and PIHo, the expression of Foxn1 was decreased in the order named. In thehyperpigmentary disorders such as CALM, PIHer and melasma, the expression of Foxn1 was increased in the order named. CONCLUSION: The intraepidermal Foxn1 expression and melanin pigments in PIHer, PIHo and melasma showed a positive correlation, but there was no statistically significant. Our findings suggest that the expression of Foxn1 might be associated with the pathogenesis of three pigment disorders (PIHo, PIHer, melasma). We consider that inflammatory mediators might interact with the intraepidermal Foxn1 expression in PIHo, PIHer and melasma, resulting in an abnormality of the mechanism of melanosome transfer. Further studies are warranted to elucidate the role of the Foxn1 expression in the pathogenesis of pigment disorders.
Hyperpigmentation ; Hypopigmentation ; Keratinocytes ; Melanins ; Melanocytes ; Melanosis ; Melanosomes ; Peroxidase ; Pigmentation ; Pityriasis ; Vitiligo

Dyschromatosis universalis hereditaria is a rare pigmentary disorder that's characterized by the presence of both small and irregular sized hyperpigmented and hypopigmented macules in a generalized distribution. The pattern of inheritance is thought to be autosomal dominant, but some sporadic and autosomal recessive inheritance cases have also been reported. We report here on a case of a-15-year old female patient with dyschromatosis universalis hereditaria, which is compatible with autosomal dominant inheritance. The patient presented with numerous small and irregularly sized hyper-and hypopigmented macules on her face, trunk and both the arms and legs, but not on the palms and soles. By analysis of her familial pedigree, we found an autosomal dominant pattern of inheritance. The biopsy specimen taken from the hyperpigmented macules showed increased melanin granules and pigmentation in the basal cell layer of the epidermis. Various therapeutic trials have been introduced to treat these lesions, but there have been few reports of simple effective treatments for the hyper-and hypopigmented lesions. So, we tried treating the hyperpigmented macules with a Q-switched Nd:YAG laser and we obtained a successful result.
Arm ; Biopsy ; Epidermis ; Female ; Humans ; Hyperpigmentation ; Leg ; Melanins ; Pedigree ; Pigmentation ; Pigmentation Disorders ; Skin Diseases, Genetic ; Wills

BACKGROUND: Home-use devices designed for cosmetic purposes have recently gained popularity. Small, low-energy, low-cost intense pulsed light (IPL) systems provide safe, convenient, and private treatment for several medical conditions. OBJECTIVE: In this study, we aimed to assess the efficacy and safety of a home-use IPL device for hair removal, acne treatment, achieving a whitening effect for hyperpigmentation, and wrinkle reduction. METHODS: Five IPL hair removal treatment sessions were performed at 1-week intervals. A total of 10 sessions were performed in a split-face manner for other medical conditions. Four independent randomized controlled trials were performed using a blind evaluation method. All subjects were followed up twice to evaluate the maintenance of efficacy. RESULTS: A significant reduction in hair was observed via trichoscopy following two sessions of treatment (p<0.001). A mean hair reduction of 80% was observed at week 4; however this returned to the previous state upon cessation of treatment. Acne grading decreased from 2.6 to 1.1 at week 8, and IPL treatment induced a significant reduction in melanin index after 2 weeks. The average values of the difference of R2 (Cutometer(R)) between IPL-treated areas and baseline were higher than those of the difference of R2 between control area and baseline. CONCLUSION: This home-use IPL device was effective for hair removal and treatment of acne, hyperpigmentation, and wrinkles.
Acne Vulgaris* ; Hair ; Hair Removal* ; Hyperpigmentation ; Melanins ; Pigmentation ; Pigmentation Disorders* ; Withholding Treatment

Melanocytes were identified by the dopa reaction, and counted in vertical sections of 183 specimens of normal skin and 218 specimens of patients with pigmentary disorders. The incidence of dopa-positive cells in the basal layer was determined. One cell in 9 in the basal layer was dopa-positive in normal specimens. There was no significant difference in the incidence of dopa-positive cells between male and female and between adult and children. Specimens from face, neck and prepuce revealed comparatively high incidence of dopa-positive cells. Among pigmentary disorders, vitiligo and halo area of halo nevus were characterized by an abscence or marked reduction in the number of dopa-positive cells, but lentigo and cafe-au-lait spot were characterized by an increase in their number In tuberous sclerosis, tinea versicolor and idiopathic guttate hypomelanosis, there wasn't any change of the melanocyte population between lesional skin and normal skin. The significance of these findings in vertical skin sections was discussed.
Adult ; Cafe-au-Lait Spots ; Child ; Dihydroxyphenylalanine* ; Female ; Humans ; Hypopigmentation ; Incidence ; Lentigo ; Male ; Melanocytes ; Neck ; Nevus, Halo ; Skin* ; Tinea Versicolor ; Tuberous Sclerosis ; Vitiligo