A Sporadic Case of Mal de Meleda Caused by Gene Mutation in SLURP-1 in Korea

Mal de Meleda (MDM), also known as keratoderma palmoplantaris transgrediens, is a rare inherited form of palmoplantar keratoderma. It is characterized by erythema and hyperkeratosis of the palms and soles, extending to the dorsal aspects of the hands and feet. A 15-year-old Korean female presented with sharply demarcated hyperkeratotic plaques on the palms and soles, which extended to the dorsal surfaces of the hands and feet, in a "glove-and-socks" distribution. The histopathologic study showed marked hyperkeratosis, acanthosis, and normogranulosis, without epidermolysis. Her genetic study detected compound heterozygous mutation in exon 3 of the ARS gene encoding SLURP-1. Family history did not reveal any other affected members and no consanguineous relationship was found. In view of these findings, we diagnosed this case as the first reported sporadic case of MDM in Korea, the farthest location from the endemic island of Meleda.     

中国蒙古族进行性对称性红斑角化症伴真菌感染1例

患者女,28岁,蒙古族,双手足背、双掌跖、双腕部及双踝部对称性红斑角化28年,手足脱屑伴甲改变20年.皮肤科情况:双手足背、双掌跖、双腕部及双踝部边界清楚、对称分布红斑,掌跖角化明显,伴有脱屑,左手拇指甲和右足拇趾甲部分颜色变黄及浑浊肥厚.实验室检查:手足、左手拇指甲和右足拇趾甲真菌镜检及培养阳性,真菌培养示红色毛癣菌...     

Acral lichen sclerosus et atrophicus

BACKGROUND: Lichen sclerosus et atrophicus rarely affects the feet or hands and in this case, it is generally part of widespread cutaneous involvement. We report a case of lichen sclerosus et atrophicus involving only the extremities and the vulvar and perigenital area. PATIENTS AND METHODS: A 56-year-old woman presented with lesions of the hands and feet, with ivory white papules on the dorsal aspect of the feet and the distal phalanx of the fingers, a few small keratotic papules with central depressions in the hollow of the palms, erythema on soles and thenar and hypothenar eminences. Further examination revealed lichen sclerosus et atrophicus of the vulva and genitocrural skinfolds. Histological study of these various cutaneous lesions yielded similar results and revealed the typical features of lichen sclerosus et atrophicus. DISCUSSION: A few cases of lichen sclerosus et atrophicus confined to the hands and/or feet have been reported, involving the palms and soles or nail folds, but none has so far affected the genitalia. To our knowledge, no cases of lichen sclerosus et atrophicus involving both faces of the hands and feet and the genital region have ever been reported.     

Cutaneous manifestations of Costello syndrome

Cutaneous findings are common in Costello syndrome, but have not been extensively reviewed in the dermatology literature. We present the cutaneous and histopathologic findings from two cases of Costello syndrome and review previously described cutaneous features of this syndrome. Both patients had manifestations of Costello syndrome with thick, lax skin on the dorsal aspects of hands and feet, deep palmar and plantar creases, curly hair, hyperkeratoses, acanthosis nigricans, papillomas, and multiple pigmented lesions. One patient had multiple syringomas on the forearms, a finding not previously reported. Pigmented lesions have previously been reported as nevi in the literature though no biopsies have been reported. We conclude that thick, loose skin on the dorsal aspects of hands and feet and deep palmar and plantar creases are cardinal manifestations of Costello syndrome and benign tumors of ectodermal origin such as papillomas, calcified epitheliomas, dermoid cysts, mammary fibroadenosis, and syringomas are important features of this syndrome.     

Acromelanosis Albo-Punctata: A Distinct Inherited Dermatosis with Acral Spotty Dyspigmentation without Systemic Involvement

We describe an otherwise healthy 7-year-old boy who developed confetti-like hypopigmented macules on the dorsal aspects of the hands and feet, spreading to the palms and soles a few months after birth. In 1964 Siemens introduced the term acromelanosis albo-punctata to describe the skin features of a patient who has remained the only reported case in the literature so far and who strongly resembles our patient. By genetic testing we excluded mutations in genes known to be involved in diseases with acral hypo- or hyperpigmentation. We review the differential diagnosis of acral localized spotty dyspigmentation and conclude that acromelanosis albo-punctata may represent a distinct entity.     

对称性肢端角化病四例

报道4例对称性肢端角化病患者,其中男3例,女1例。表现为手腕、手背及足背部对称性红褐色角化性斑片,遇水皮损发白,冬季明显缓解。组织病理：角化过度,角化不全,表皮增生,棘层增厚,真皮浅层血管周围可见少许淋巴细胞浸润。符合对称性肢端角化病。     

Spitz nevus on the palmar surface

Relatively little is known about the incidence of Spitz nevus on palmar surfaces. This report places a case study in the context of the Japanese literature regarding the occurrence of Spitz nevus on palmar surfaces. Although the proportion of palms and soles in relation to the body surface is about 5%, the incidence of the Spitz nevus was 2%. The mean age at onset was 17.8 years, and all 4 cases were women. The clinical features were a black macule or flatly elevated small modules. The size of the lesions was relatively small, extending from 3.5 mm to 8.0 mm. Although the backs of the hands and insteps have almost the same area as the palms and soles, the incidence of onset in these regions was 6.3% (13 cases). We thus concluded that Spitz nevus tends to be rare on palms and soles.     

对称性肢端角化病1例

患者男,24岁。手足皮疹3年,加重1年。皮损特点为对称分布的红褐色角化性斑片,多发于手腕、手背及足背。遇水皮肤发白,冬季明显缓解。皮损组织病理示:角化过度、棘层肥厚、真皮浅层血管周围淋巴细胞浸润。诊断:对称性肢端角化病。     

Palmar and plantar pustulosis elicited by Candida antigen.

Intracutaneous injection of Candida albicans was done on the forearm of 30 patients with palmar and plantar pustulosis. This induced an aggravation of pustular eruptions on the palms and soles in 11 (37%) of the 30 patients. The aggravation occurred only in those patients who had a positive delayed skin reaction to the Candida antigen. It is suggested that a delayed hypersensitivity inflammatory reaction somewhere in the body is attended with an aggravation of palmar plantar pustulosis.     

Palmoplantar keratoderma – Mal de Meleda syndrome

One sister and one brother (of four), aged 18 and 12 years, respectively, born of a consanguineous marriage between first cousins, presented with thickening of the palms and soles after 1 year of life, which was slowly increasing, and the simultaneous appearance of thickened skin: colored plaques on the dorsal aspect of the hands, feet, knees, and ankles. There was hyperhidrosis of the palms and soles, but no history of similar complaints in the maternal/paternal family. The pedigree was as shown in Fig. 1.
On examination, the sister showed diffuse palmoplantar keratoderma extending to the dorsal surface with sharp margins. The fingers were short and mutilated, and the nails showed subungual hyperkeratosis, onycholysis, and Beau's lines (Figs 2 and 3). Circular hyperkeratotic knuckle-pad-like thickenings were present on all proximal interphalangeal joints and some knuckles. Irregular-shaped hyperkeratotic plaques and linear keratosis were present on the flexor aspect of the wrists and on the dorsal aspect of the feet, ankles, and knees.
The brother (12 years old) showed the same type of clinical features.
The histopathology revealed hyperkeratosis, hypergranulosis, acanthosis, and chronic inflammatory dermal infiltrate.
General and systemic examination of all the sisters and brothers was normal. Ophthalmologic examination was normal. Oto-rhino-laryngologic examination showed a high arched palate. Intelligence testing of all sisters and brothers was normal.
The patients were given oral vitamin A with vitamin E and topical keratolytes. They are under follow-up at present.     

Milia with Calcium Deposits on the Palms and Soles in a Patient with Multiple Syringoma

Abstract: An 8‐year‐old girl was referred for evaluation of multiple lesions on the neck, axillae, and genitalia. A great number of milia‐like lesions were also noticed on the palms and discrete keratotic plugs on the soles. Histopathology from lesions on the neck, axilla, and vulva were consistent with syringoma. On the palms and soles, eccrine ducts cystically dilated filled with proteinaceous material and calcifications were found. Although the nature of palmar and plantar lesions in our patient is uncertain, we think that they should be related to the other syringomas on her skin.     

Is acquired symmetrical acrokeratoderma a new dermatosis? Two case reports and Chinese literature review

Background A series of cases characterized by symmetrical acral hyperkeratosis, mainly involving the dorsal surface of the hands, feet, and wrists, but sparing the palmoplantar areas, as well as rapid immersion upon exposure to water have been recently described in China, but similar disorders have not been reported in the English literature. Methods The clinicopathologic features of two cases of acquired symmetrical acrokeratoderma were reported and 27 Chinese patients were reviewed. Results The disorder typically occurred in young or middle aged men. Brown to black hyperkeratotic patches were symmetrically distributed particularly on the wrists and dorsum of hands, fingers, and feet, but without involvement of palms and soles. The lesions became whitish with mild swelling immediately after contact with water and improved generally in winter. Histopathologic examination revealed epidermal hyperkeratosis, acanthosis, and papillomatous hyperplasia, as well as superficial perivascular lymphohistiocytic infiltrate. Main ultrastructural features of the immersed lesion were epidermal hyperkeratosis and spongiosis with partial split of the desmosomes. Conclusion This disorder may be a new dermatosis, and the term “acquired symmetrical acrokeratoderma” could exactly reflect its clinicopathologic characteristics.     

Mal de Meleda with Congenital Cataract: A Novel Case Report

Mal de meleda (MdM), a rare autosomal recessive genodermatosis is characterized by erythema and hyperkeratosis of the palms and soles with a sharp demarcation and that progress with age (progrediens) and extend to the dorsal aspects of the hands and feet (transgrediens). It has been associated with various conditions albeit rarely with congenial cataract. Ocular lens and the skin have the same embryological origins. We hereby present this novel case report of Mal de meleda in association with congenital posterior subcapsular cataract which to the best of our knowledge has not been reported from India before.     

Late‐onset Papillon–Lefevre syndrome with pyogenic liver abscesses: report of one case

A 25‐year‐old woman living in Hamedan, Iran, presented originally at 7 years of age with erythematous, hyperkeratotic lesions on the palms and soles with extension to the dorsal side of the hands and feet. Involvement of the elbows and knees was also seen. From 12 years of age, she started to lose her teeth. At the same age, she experienced fever, chills, malaise, myalgia, and right upper quadrant abdominal pain. With a diagnosis of pyogenic liver abscesses, the patient underwent successful surgical treatment. Examination revealed erythematous, hyperkeratotic, scaling plaques on the palms and soles, dorsal side of the hands and feet ( Fig. 1 ), elbows and knees. All the teeth were missing from the mouth ( Fig. 2 ), and she used a dental prosthesis. A surgical scar was observed on the right upper quadrant of the abdomen ( Fig. 3 ). Skull X‐ray and computed tomography scan were normal. Skin biopsy of the dorsal right hand demonstrated hyperkeratosis, focal parakeratosis, hypergranulosis, and acanthosis with a mild inflammatory infiltrate around the vessels ( Fig. 4 ).

Figure 1 Open in figure viewer PowerPoint Hyperkeratotic plaques on the hands and feet     

Gloves and socks syndrome caused by parvovirus B19 infection

The papular purpuric gloves and socks syndrome (PPGSS) is an uncommon dermatosis with a typical purpuric exanthem limited to hands and feet; it occurs mainly in young adults. We report a case of a 19-year-old man with an acute febrile illness accompanied by purpuric and papular lesions located mostly on the dorsal areas of his hands and feet. Serologic analysis for parvovirus B19 yielded positive results. The diagnosis of PPGSS was made. The eruption cleared without therapy in 12 days with plantar and palmar desquamation. Parvovirus B19 and some other viral infections have been proven to be causative agents of this syndrome.     

Discrete palmar and plantar symptoms in children with dermatitis herpetiformis Duhring

Unusual, discrete palmar and plantar symptoms observed in thirty of forty-seven children with dermatitis herpetiformis are described. The diagnosis was verified in every case by the demonstration of granular IgA deposits in the skin. Forty-five of the children showed villous atrophy in jejunal biopsy specimens. In four cases extensive, exudative, bullous palmar symptoms, similar mild plantar changes, and healing with desquamation were observed. At least once during treatment we found very discrete, reddish-brown spots or small blisters on the flexor surface of the fingers and on the palms in thirty patients. Similar lesions occurred on the soles and plantar surface of the toes in only three patients. In asymptomatic patients and those treated with either a gluten-free diet or sulfone/sulfapyridine, the phenomenon was not manifest.     

Pachyonychia Congenita: A Clinical Study of 12 Cases and Review of the Literature

Twelve cases of pachyonychia congenita were reviewed. The mode of inheritance was autosomal dominant. The clinical features of these patients included thickened nails, hyperkeratosis of the palms and soles, thinning of hair or alopecia, painful bullae or ulcerations of the palms and soles, leukokeratosis oris, verrucous lesions of the extremities, hyperhidrosis, premature eruption of teeth, paronychial infections, epidermal cysts with milia, and corneal dyskeratosis at times associated with cataracts. Biopsy from the plantar lesions usually revealed marked hyperkeratosis, acanthosis, moderate hypergranulosis, and minimal dermal inflammatory infiltration. Treatment with keratolytic agents and lubricants is indicated to areas of palmar and plantar hyperkeratosis but usually produces only transient benefit. Squamous cell carcinoma developed in one of the patients over the site of chronic plantar ulcerations. Areas of chronic bullous formation or ulceration should be observed for possible skin malignancy.     

Punctate keratoses of the palms and soles and keratotic pits of the palmar creases

Punctate keratoses of the palms and soles and keratotic pits of the palmar creases are frequently confused. A prospective study of 283 patients revealed a prevalence of 11% and 3%, respectively, in a metropolitan county hospital dermatology clinic. Punctate keratoses of the palms and soles and keratotic pits of the palmar creases are similar in size, number of lesions per palm, aggravation by trauma, and predominance in blacks and in men. These entities are different in appearance, distribution, age at onset, prevalence, symptoms, and prognosis. Punctate keratosis of the palms and soles and keratotic pits of the palmar creases should be considered independent entities. To help eliminate confusion, we propose that punctate keratoses refer only to the hyperkeratotic papules scattered diffusely in the palms and occasionally in the soles and that keratotic pits of the palmar creases refer only the hyperkeratotic, conical depressions confined to the palmar creases.     

Clinical evaluation of atopic hand-foot dermatitis

Clinical manifestations of atopic hand-foot (H-F) dermatitis have not been well studied. This study examined 108 atopic dermatitis (AD) patients with H-F dermatitis between May 1997 and July 1999 at our AD clinic to determine the clinical characteristics of atopic H-F dermatitis and to assess its etiologic associations. It usually began in childhood with an early onset of AD. Pruritus was the most frequent symptom, and erythema, scales, lichenification, hyperkeratosis, fissures, and keratolysis exfoliativa were also common signs. Both the hands and feet were involved in 47 (44.0%) patients, and either hand or foot involvement was observed in 15 (13.9%) and 46 (42.6%) patients, respectively. Palmar or plantar surfaces were more frequently involved than the dorsal aspects. The great toe was affected more often than the other toes. Two-thirds of patients presented with manifestations of the ichthyosis triad and sandpaper-like skin lesions on the elbow, knee, and lateral malleolus. Palmar or plantar hyperhidrosis was reported in 15% and 20%, respectively. The ichthyosis triad-associated group showed a significantly higher incidence of sandpaper-like (thickened, roughened) skin lesions, and these patients had lesions on the dorsal hands or heels and lateral malleolus more frequently than ichthyosis triad-absent patients. The hyperhidrosis-associated group showed an association with glassy lesions, localized to palmar or plantar areas. Atopic H-F dermatitis is associated with the nonallergic etiologies of AD and clinical subgroups can be identified on the basis of nonallergic backgrounds.     

Wrinkly Skin Syndrome: Ultrastructural Alterations of the Elastic Fibers

We report the clinical and pathologic features of a patient with wrinkly skin syndrome. The essential clinical features were wrinkly skin with poor elasticity over the abdomen and on the dorsum of the hands and feet, increased palmar and plantar creases, and a prominent venous pattern over the chest. On light microscopy, histopathologic findings included appreciable heterogeneity in the structure, amount, and distribution pattern of elastic fibers. Agglutination and fragmentation of the microfibrillar component and a remarkable decrease in elastin were the major ultrastructural features. The differential diagnosis with other connective tissue disorders is discussed.