A case of lichen planopilaris associated with lichen planus following Blaschko lines successfully treated with topical corticosteroid

Lichen planopilaris (LPP) is characterized by erythematous, keratotic follicular papules and cicatricial alopecia. LPP, the most common cause of cicatricial alopecia, is usually seen in women and causes significant psychosocial morbidity. We describe here a 42-year-old woman with a 6-month history of hair loss accompanied by itching on the scalp. Dermatological examination revealed patchy cicatricial alopecia in the vertex and band-like purple flat patches and plaques following the Blaschko lines on the right half of the body, together with post-inflammatory hyperpigmentation. Histopathological examination of the scalp biopsy was consistent with LPP, while thigh biopsy was consistent with lichen planus. With the histopathological and clinical evidence, our patient was evaluated as LPP associated with LP and successfully treated with topical corticosteroid. A few LPP and LP cases following the Blaschko lines have previously been reported separately. However, LPP, together with LP following Blaschko lines, have not been reported in the same patient.

The clinical and (dermato) pathological signifcance of neural crest cells. Blaschko lines and dermatoses. Neurocristopathies

In the course of their migration the neural crest cells reach all parts of the developing embryo. The frst wave of the derivatives of these cells the melanoblasts and melanocytes harbour in the epidermis and hair follicles during the dorsolateral migration. A number of signal molecules and proteases play an important role in the course of melanocyte migration through the extracellular matrix. The Mongolian spots appear as a consequence of the transient inhibition of melanocyte migration and in the case of fnal obstruction the Ota-, or. Ito nevuses. The Blaschko lines based on cutaneous mosaicism are of great diagnostic importance and on the ground of these lines the blaschkitises can appear under the exogenous factors. The blaschkolinear acquired infammatory skin eruption (BLAISE) is an acquired infammatory process. One of its variants is the lichen striatus and the other is the blaschkitis. The blaschkolinear dermatoses can appear usually as a nevoid disease. The pathological development of the neural crest cells can induce pathological processes in other tissues of the body as well, which may appear in the form of the so-called neurocristopathies including approximately ffty manifestations. The knowledge of the diferent pigmentation forms as well as the pathological symptoms of neurocristopathies is of great importance for the clinican from a diagnostic point of view.

Post Zygotic, Somatic, Deletion in KERATIN 1 V1 Domain Generates Structural Alteration of the K1/K10 Dimer, Producing a Monolateral Palmar Epidermolytic Nevus

Palmoplantar keratodermas (PPKs) are characterized by thickness of stratum corneum and epidermal hyperkeratosis localized in palms and soles. PPKs can be epidermolytic (EPPK) or non epidermolytic (NEPPK). Specific mutations of keratin 16 (K16) and keratin 1 (K1) have been associated to EPPK, and NEPPK. Cases of mosaicism in PPKs due to somatic keratin mutations have also been described in scientific literature. We evaluated a patient presenting hyperkeratosis localized monolaterally in the right palmar area, characterized by linear yellowish hyperkeratotic lesions following the Blaschko lines. No other relatives of the patient showed any dermatological disease. Light and confocal histological analysis confirmed the presence of epidermolityic hyperkeratosis. Genetic analysis performed demonstrates the heterozygous deletion NM_006121.4:r.274_472del for a total of 198 nucleotides, in KRT1 cDNA obtained by a palmar lesional skin biopsy, corresponding to the protein mutation NP_006112.3:p.Gly71_Gly137del. DNA extracted from peripheral blood lymphocytes did not display the presence of the mutation. These results suggest a somatic mutation causing an alteration in K1 N-terminal variable domain (V1). The deleted sequence involves the ISIS subdomain, containing a lysine residue already described as fundamental for epidermal transglutaminases in the crosslinking of IF cytoskeleton. Moreover, a computational analysis of the wild-type and V1-mutated K1/K10 keratin dimers, suggests an unusual interaction between these keratin filaments. The mutation taster in silico analysis also returned a high probability for a deleterious mutation. These data demonstrate once again the importance of the head domain (V1) of K1 in the formation of a functional keratinocyte cytoskeleton. Moreover, this is a further demonstration of the presence of somatic mutations arising in later stages of the embryogenesis, generating a mosaic phenotype.

Linear Atrophoderma of Moulin Localized to Face: An Exceedingly Rare Entity

Introduction: Linear atrophoderma of Moulin (LAM) is a rare dermatologic disorder characterized by hyperpigmented atrophic plaques following the Blaschko lines (BL). The trunk and limbs are the usual sites affected. Isolated facial involvement is an exceedingly rare entity. Despite a comprehensive medical literature search, the author could find only two cases of LAM where the lesions are exclusively localized to the face. In this article, the author presents the third case of LAM localized to face only. Case Presentation: A 26-year-old male complained of multiple linear non-pruritic pigmented lesions over the left side of the nose and glabellar area of six months’ duration. There was no history of erythema, thickening/hardening of skin, or violaceous border surrounding the lesions. On clinical examination, there were multiple hyperpigmented brownish lesions, the majority of which were depressed, involving the left ala and bridge of nose laterally and glabellar area in a Blaschkoid pattern. Diagnosis of LAM was established based on suggestive history and clinical examination. Conclusions: LAM is a rare disorder, and the facial localization makes it exceedingly rare. It should be kept in the differential diagnosis when hyperpigmented depressed lesions are present in a Blaschkoid pattern on the face.

Unilateral Blaschko-linear eruption with Gottron-like papules: blaschkoid lupus erythematosus or dermatomyositis?

A 6-year-old boy presented with dusky erythematous plaques in linear and whorled pattern over limbs and trunk for the past 1 year along with subcutaneous nodule on the left cheek of 3 months duration. He also had Gottron-like and inverse Gottron-like papules on hands. Histology from truncal lesion showed interface dermatitis with superficial and deep perivascular and periappendageal infiltrate suggestive of discoid cutaneous lupus erythematosus (CLE), while biopsy from facial nodule revealed features of lupus panniculitis. The connective tissue disease workup showed only antinuclear antibody positivity (2+, 1:100 dilution). There was no clinical or investigational evidence of myositis as part of dermatomyositis (DM) workup. A final diagnosis of Blaschko-linear CLE was made, since Gottron-like and inverse Gottron-like papules can be found in CLE as well. The present case highlights the rarity of presentation of CLE along Blaschko lines and overlapping features of Blaschko-linear CLE with DM.

Epileptic Spasms in an Infant with Incontinentia Pigmenti: Report of a Rare Case with Brief Review of the Literature

Incontinentia pigmenti (IP) or Bloch–Sulzberger’s disease is a rare neurocutaneous syndrome with dermatological, neurologic, and systemic manifestations including retinal, dental and hair abnormalities. It follows X-linked dominant inheritance and predominantly affects female children. The characteristic evolution of skin lesions in four stages is a hallmark diagnostic feature of the disease. The pigmented lesions of IP are usually distributed in linear streaks, macular whorls, reticulated patches, and flecks along the Blaschko lines. Neurologic morbidities are found in a considerable proportion of affected children, and the spectrum includes seizures, neuromotor impairment, microcephaly, developmental delay, and intellectual disability. Seizures are reported in 10% to 25% of children with IP in various previous clinical studies. The majority of these children had seizures in the neonatal period or early infancy, and focal–clonic seizure is the commonest observed semiology. However, there are only a few case reports of infants with IP with epileptic spasms. In this report, the clinical course of a 6-month-old girl with IP and epileptic spasms has been described, who responded favorably to treatment with adrenocorticotropic hormone injection. Clinicians managing children with IP should be aware of their predisposition to develop epileptic spasms and consider neuroimaging, electroencephalogram, and other investigations accordingly.